SNP Links for Protein (Select 1002819353) - SNP

Links from Protein

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Select item 14908368941.

rs1490836894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:28682952 (GRCh38)
17:27009970 (GRCh37)
Canonical SPDI:: NC_000017.11:28682951:A:G,NC_000017.11:28682951:A:T
Gene:: SUPT6H (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00003/1 (ALFA)
HGVS:: NC_000017.11:g.28682952A>G, NC_000017.11:g.28682952A>T, NC_000017.10:g.27009970A>G, NC_000017.10:g.27009970A>T, NM_003170.5:c.1738A>G, NM_003170.5:c.1738A>T, NM_003170.4:c.1738A>G, NM_003170.4:c.1738A>T, NM_003170.3:c.1738A>G, NM_003170.3:c.1738A>T, NM_001320755.2:c.1738A>G, NM_001320755.2:c.1738A>T, NM_001320755.1:c.1738A>G, NM_001320755.1:c.1738A>T, XM_017024980.2:c.1369A>G, XM_017024980.2:c.1369A>T, XM_017024980.1:c.1369A>G, XM_017024980.1:c.1369A>T, XM_047436604.1:c.1738A>G, XM_047436604.1:c.1738A>T, XM_047436601.1:c.1738A>G, XM_047436601.1:c.1738A>T, XM_047436600.1:c.1738A>G, XM_047436600.1:c.1738A>T, XM_047436602.1:c.1738A>G, XM_047436602.1:c.1738A>T, XM_047436603.1:c.1738A>G, XM_047436603.1:c.1738A>T, XM_047436605.1:c.1738A>G, XM_047436605.1:c.1738A>T, XM_047436599.1:c.1738A>G, XM_047436599.1:c.1738A>T, XM_047436595.1:c.1738A>G, XM_047436595.1:c.1738A>T, XM_047436597.1:c.1738A>G, XM_047436597.1:c.1738A>T, XM_047436596.1:c.1738A>G, XM_047436596.1:c.1738A>T, XM_047436606.1:c.1738A>G, XM_047436606.1:c.1738A>T, XM_047436607.1:c.1738A>G, XM_047436607.1:c.1738A>T, NP_003161.2:p.Thr580Ala, NP_003161.2:p.Thr580Ser, NP_001307684.1:p.Thr580Ala, NP_001307684.1:p.Thr580Ser, XP_016880469.1:p.Thr457Ala, XP_016880469.1:p.Thr457Ser, XP_047292560.1:p.Thr580Ala, XP_047292560.1:p.Thr580Ser, XP_047292557.1:p.Thr580Ala, XP_047292557.1:p.Thr580Ser, XP_047292556.1:p.Thr580Ala, XP_047292556.1:p.Thr580Ser, XP_047292558.1:p.Thr580Ala, XP_047292558.1:p.Thr580Ser, XP_047292559.1:p.Thr580Ala, XP_047292559.1:p.Thr580Ser, XP_047292561.1:p.Thr580Ala, XP_047292561.1:p.Thr580Ser, XP_047292555.1:p.Thr580Ala, XP_047292555.1:p.Thr580Ser, XP_047292551.1:p.Thr580Ala, XP_047292551.1:p.Thr580Ser, XP_047292553.1:p.Thr580Ala, XP_047292553.1:p.Thr580Ser, XP_047292552.1:p.Thr580Ala, XP_047292552.1:p.Thr580Ser, XP_047292562.1:p.Thr580Ala, XP_047292562.1:p.Thr580Ser, XP_047292563.1:p.Thr580Ala, XP_047292563.1:p.Thr580Ser

Select item 14907048392.

rs1490704839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:28681925 (GRCh38)
17:27008943 (GRCh37)
Canonical SPDI:: NC_000017.11:28681924:G:C
Gene:: SUPT6H (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28681925G>C, NC_000017.10:g.27008943G>C, NM_003170.5:c.1542G>C, NM_003170.4:c.1542G>C, NM_003170.3:c.1542G>C, NM_001320755.2:c.1542G>C, NM_001320755.1:c.1542G>C, XM_017024980.2:c.1173G>C, XM_017024980.1:c.1173G>C, XM_047436604.1:c.1542G>C, XM_047436601.1:c.1542G>C, XM_047436600.1:c.1542G>C, XM_047436602.1:c.1542G>C, XM_047436603.1:c.1542G>C, XM_047436605.1:c.1542G>C, XM_047436599.1:c.1542G>C, XM_047436595.1:c.1542G>C, XM_047436597.1:c.1542G>C, XM_047436596.1:c.1542G>C, XM_047436606.1:c.1542G>C, XM_047436607.1:c.1542G>C, NP_003161.2:p.Glu514Asp, NP_001307684.1:p.Glu514Asp, XP_016880469.1:p.Glu391Asp, XP_047292560.1:p.Glu514Asp, XP_047292557.1:p.Glu514Asp, XP_047292556.1:p.Glu514Asp, XP_047292558.1:p.Glu514Asp, XP_047292559.1:p.Glu514Asp, XP_047292561.1:p.Glu514Asp, XP_047292555.1:p.Glu514Asp, XP_047292551.1:p.Glu514Asp, XP_047292553.1:p.Glu514Asp, XP_047292552.1:p.Glu514Asp, XP_047292562.1:p.Glu514Asp, XP_047292563.1:p.Glu514Asp

Select item 14904089733.

rs1490408973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28674327 (GRCh38)
17:27001345 (GRCh37)
Canonical SPDI:: NC_000017.11:28674326:G:A
Gene:: SUPT6H (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28674327G>A, NC_000017.10:g.27001345G>A, NM_003170.5:c.154G>A, NM_003170.4:c.154G>A, NM_003170.3:c.154G>A, NM_001320755.2:c.154G>A, NM_001320755.1:c.154G>A, XM_017024980.2:c.-216G>A, XM_017024980.1:c.-216G>A, XM_047436604.1:c.154G>A, XM_047436601.1:c.154G>A, XM_047436600.1:c.154G>A, XM_047436602.1:c.154G>A, XM_047436603.1:c.154G>A, XM_047436605.1:c.154G>A, XM_047436599.1:c.154G>A, XM_047436595.1:c.154G>A, XM_047436597.1:c.154G>A, XM_047436596.1:c.154G>A, XM_047436606.1:c.154G>A, XM_047436607.1:c.154G>A, NP_003161.2:p.Gly52Ser, NP_001307684.1:p.Gly52Ser, XP_047292560.1:p.Gly52Ser, XP_047292557.1:p.Gly52Ser, XP_047292556.1:p.Gly52Ser, XP_047292558.1:p.Gly52Ser, XP_047292559.1:p.Gly52Ser, XP_047292561.1:p.Gly52Ser, XP_047292555.1:p.Gly52Ser, XP_047292551.1:p.Gly52Ser, XP_047292553.1:p.Gly52Ser, XP_047292552.1:p.Gly52Ser, XP_047292562.1:p.Gly52Ser, XP_047292563.1:p.Gly52Ser

Select item 14881188234.

rs1488118823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28695541 (GRCh38)
17:27022559 (GRCh37)
Canonical SPDI:: NC_000017.11:28695540:C:T
Gene:: SUPT6H (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28695541C>T, NC_000017.10:g.27022559C>T, NM_003170.5:c.3964C>T, NM_003170.4:c.3964C>T, NM_003170.3:c.3964C>T, NM_001320755.2:c.3964C>T, NM_001320755.1:c.3964C>T, XM_017024980.2:c.3595C>T, XM_017024980.1:c.3595C>T, XM_047436604.1:c.3964C>T, XM_047436601.1:c.3964C>T, XM_047436600.1:c.3964C>T, XM_047436602.1:c.3964C>T, XM_047436603.1:c.3964C>T, XM_047436605.1:c.3964C>T, XM_047436599.1:c.3964C>T, XM_047436595.1:c.3964C>T, XM_047436597.1:c.3964C>T, XM_047436596.1:c.3964C>T, XM_047436606.1:c.*152C>T, NP_003161.2:p.Arg1322Trp, NP_001307684.1:p.Arg1322Trp, XP_016880469.1:p.Arg1199Trp, XP_047292560.1:p.Arg1322Trp, XP_047292557.1:p.Arg1322Trp, XP_047292556.1:p.Arg1322Trp, XP_047292558.1:p.Arg1322Trp, XP_047292559.1:p.Arg1322Trp, XP_047292561.1:p.Arg1322Trp, XP_047292555.1:p.Arg1322Trp, XP_047292551.1:p.Arg1322Trp, XP_047292553.1:p.Arg1322Trp, XP_047292552.1:p.Arg1322Trp

Select item 14876041215.

rs1487604121 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28693791 (GRCh38)
17:27020809 (GRCh37)
Canonical SPDI:: NC_000017.11:28693790:A:G
Gene:: SUPT6H (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28693791A>G, NC_000017.10:g.27020809A>G, NM_003170.5:c.3729A>G, NM_003170.4:c.3729A>G, NM_003170.3:c.3729A>G, NM_001320755.2:c.3729A>G, NM_001320755.1:c.3729A>G, XM_017024980.2:c.3360A>G, XM_017024980.1:c.3360A>G, XM_047436604.1:c.3729A>G, XM_047436601.1:c.3729A>G, XM_047436600.1:c.3729A>G, XM_047436602.1:c.3729A>G, XM_047436603.1:c.3729A>G, XM_047436605.1:c.3729A>G, XM_047436599.1:c.3729A>G, XM_047436595.1:c.3729A>G, XM_047436597.1:c.3729A>G, XM_047436596.1:c.3729A>G, XM_047436606.1:c.3729A>G

Select item 14875677906.

rs1487567790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:28693734 (GRCh38)
17:27020752 (GRCh37)
Canonical SPDI:: NC_000017.11:28693733:G:T
Gene:: SUPT6H (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28693734G>T, NC_000017.10:g.27020752G>T, NM_003170.5:c.3672G>T, NM_003170.4:c.3672G>T, NM_003170.3:c.3672G>T, NM_001320755.2:c.3672G>T, NM_001320755.1:c.3672G>T, XM_017024980.2:c.3303G>T, XM_017024980.1:c.3303G>T, XM_047436604.1:c.3672G>T, XM_047436601.1:c.3672G>T, XM_047436600.1:c.3672G>T, XM_047436602.1:c.3672G>T, XM_047436603.1:c.3672G>T, XM_047436605.1:c.3672G>T, XM_047436599.1:c.3672G>T, XM_047436595.1:c.3672G>T, XM_047436597.1:c.3672G>T, XM_047436596.1:c.3672G>T, XM_047436606.1:c.3672G>T, NP_003161.2:p.Gln1224His, NP_001307684.1:p.Gln1224His, XP_016880469.1:p.Gln1101His, XP_047292560.1:p.Gln1224His, XP_047292557.1:p.Gln1224His, XP_047292556.1:p.Gln1224His, XP_047292558.1:p.Gln1224His, XP_047292559.1:p.Gln1224His, XP_047292561.1:p.Gln1224His, XP_047292555.1:p.Gln1224His, XP_047292551.1:p.Gln1224His, XP_047292553.1:p.Gln1224His, XP_047292552.1:p.Gln1224His, XP_047292562.1:p.Gln1224His

Select item 14868839037.

rs1486883903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28683762 (GRCh38)
17:27010780 (GRCh37)
Canonical SPDI:: NC_000017.11:28683761:G:A
Gene:: SUPT6H (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28683762G>A, NC_000017.10:g.27010780G>A, NM_003170.5:c.2175G>A, NM_003170.4:c.2175G>A, NM_003170.3:c.2175G>A, NM_001320755.2:c.2175G>A, NM_001320755.1:c.2175G>A, XM_017024980.2:c.1806G>A, XM_017024980.1:c.1806G>A, XM_047436604.1:c.2175G>A, XM_047436601.1:c.2175G>A, XM_047436600.1:c.2175G>A, XM_047436602.1:c.2175G>A, XM_047436603.1:c.2175G>A, XM_047436605.1:c.2175G>A, XM_047436599.1:c.2175G>A, XM_047436595.1:c.2175G>A, XM_047436597.1:c.2175G>A, XM_047436596.1:c.2175G>A, XM_047436606.1:c.2175G>A, XM_047436607.1:c.2175G>A, NP_003161.2:p.Met725Ile, NP_001307684.1:p.Met725Ile, XP_016880469.1:p.Met602Ile, XP_047292560.1:p.Met725Ile, XP_047292557.1:p.Met725Ile, XP_047292556.1:p.Met725Ile, XP_047292558.1:p.Met725Ile, XP_047292559.1:p.Met725Ile, XP_047292561.1:p.Met725Ile, XP_047292555.1:p.Met725Ile, XP_047292551.1:p.Met725Ile, XP_047292553.1:p.Met725Ile, XP_047292552.1:p.Met725Ile, XP_047292562.1:p.Met725Ile, XP_047292563.1:p.Met725Ile

Select item 14862054628.

rs1486205462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28675148 (GRCh38)
17:27002166 (GRCh37)
Canonical SPDI:: NC_000017.11:28675147:A:G
Gene:: SUPT6H (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28675148A>G, NC_000017.10:g.27002166A>G, NM_003170.5:c.524A>G, NM_003170.4:c.524A>G, NM_003170.3:c.524A>G, NM_001320755.2:c.524A>G, NM_001320755.1:c.524A>G, XM_017024980.2:c.155A>G, XM_017024980.1:c.155A>G, XM_047436604.1:c.524A>G, XM_047436601.1:c.524A>G, XM_047436600.1:c.524A>G, XM_047436602.1:c.524A>G, XM_047436603.1:c.524A>G, XM_047436605.1:c.524A>G, XM_047436599.1:c.524A>G, XM_047436595.1:c.524A>G, XM_047436597.1:c.524A>G, XM_047436596.1:c.524A>G, XM_047436606.1:c.524A>G, XM_047436607.1:c.524A>G, NP_003161.2:p.Asp175Gly, NP_001307684.1:p.Asp175Gly, XP_016880469.1:p.Asp52Gly, XP_047292560.1:p.Asp175Gly, XP_047292557.1:p.Asp175Gly, XP_047292556.1:p.Asp175Gly, XP_047292558.1:p.Asp175Gly, XP_047292559.1:p.Asp175Gly, XP_047292561.1:p.Asp175Gly, XP_047292555.1:p.Asp175Gly, XP_047292551.1:p.Asp175Gly, XP_047292553.1:p.Asp175Gly, XP_047292552.1:p.Asp175Gly, XP_047292562.1:p.Asp175Gly, XP_047292563.1:p.Asp175Gly

Select item 14860918999.

rs1486091899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28683087 (GRCh38)
17:27010105 (GRCh37)
Canonical SPDI:: NC_000017.11:28683086:A:G
Gene:: SUPT6H (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.28683087A>G, NC_000017.10:g.27010105A>G, NM_003170.5:c.1873A>G, NM_003170.4:c.1873A>G, NM_003170.3:c.1873A>G, NM_001320755.2:c.1873A>G, NM_001320755.1:c.1873A>G, XM_017024980.2:c.1504A>G, XM_017024980.1:c.1504A>G, XM_047436604.1:c.1873A>G, XM_047436601.1:c.1873A>G, XM_047436600.1:c.1873A>G, XM_047436602.1:c.1873A>G, XM_047436603.1:c.1873A>G, XM_047436605.1:c.1873A>G, XM_047436599.1:c.1873A>G, XM_047436595.1:c.1873A>G, XM_047436597.1:c.1873A>G, XM_047436596.1:c.1873A>G, XM_047436606.1:c.1873A>G, XM_047436607.1:c.1873A>G, NP_003161.2:p.Arg625Gly, NP_001307684.1:p.Arg625Gly, XP_016880469.1:p.Arg502Gly, XP_047292560.1:p.Arg625Gly, XP_047292557.1:p.Arg625Gly, XP_047292556.1:p.Arg625Gly, XP_047292558.1:p.Arg625Gly, XP_047292559.1:p.Arg625Gly, XP_047292561.1:p.Arg625Gly, XP_047292555.1:p.Arg625Gly, XP_047292551.1:p.Arg625Gly, XP_047292553.1:p.Arg625Gly, XP_047292552.1:p.Arg625Gly, XP_047292562.1:p.Arg625Gly, XP_047292563.1:p.Arg625Gly

Select item 148531179410.

rs1485311794 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28697694 (GRCh38)
17:27024712 (GRCh37)
Canonical SPDI:: NC_000017.11:28697693:T:C
Gene:: SUPT6H (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28697694T>C, NC_000017.10:g.27024712T>C, NM_003170.5:c.4284T>C, NM_003170.4:c.4284T>C, NM_003170.3:c.4284T>C, NM_001320755.2:c.4284T>C, NM_001320755.1:c.4284T>C, XM_017024980.2:c.3915T>C, XM_017024980.1:c.3915T>C, XM_047436604.1:c.4284T>C, XM_047436601.1:c.4284T>C, XM_047436600.1:c.4284T>C, XM_047436602.1:c.4284T>C, XM_047436603.1:c.4284T>C, XM_047436605.1:c.4284T>C, XM_047436599.1:c.4284T>C, XM_047436595.1:c.4284T>C, XM_047436597.1:c.4284T>C, XM_047436596.1:c.4284T>C

Select item 148418033011.

rs1484180330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28701085 (GRCh38)
17:27028103 (GRCh37)
Canonical SPDI:: NC_000017.11:28701084:C:T
Gene:: SUPT6H (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.28701085C>T, NC_000017.10:g.27028103C>T, NM_003170.5:c.4951C>T, NM_003170.4:c.4951C>T, NM_003170.3:c.4951C>T, NM_001320755.2:c.4951C>T, NM_001320755.1:c.4951C>T, XM_017024980.2:c.4582C>T, XM_017024980.1:c.4582C>T, XM_047436604.1:c.4951C>T, XM_047436601.1:c.4951C>T, XM_047436600.1:c.4951C>T, XM_047436602.1:c.4951C>T, XM_047436603.1:c.4951C>T, XM_047436605.1:c.4951C>T, XM_047436599.1:c.4951C>T, XM_047436595.1:c.4951C>T, XM_047436597.1:c.4951C>T, XM_047436596.1:c.4951C>T, NP_003161.2:p.Pro1651Ser, NP_001307684.1:p.Pro1651Ser, XP_016880469.1:p.Pro1528Ser, XP_047292560.1:p.Pro1651Ser, XP_047292557.1:p.Pro1651Ser, XP_047292556.1:p.Pro1651Ser, XP_047292558.1:p.Pro1651Ser, XP_047292559.1:p.Pro1651Ser, XP_047292561.1:p.Pro1651Ser, XP_047292555.1:p.Pro1651Ser, XP_047292551.1:p.Pro1651Ser, XP_047292553.1:p.Pro1651Ser, XP_047292552.1:p.Pro1651Ser

Select item 148302821212.

rs1483028212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:28682991 (GRCh38)
17:27010009 (GRCh37)
Canonical SPDI:: NC_000017.11:28682990:G:T
Gene:: SUPT6H (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28682991G>T, NC_000017.10:g.27010009G>T, NM_003170.5:c.1777G>T, NM_003170.4:c.1777G>T, NM_003170.3:c.1777G>T, NM_001320755.2:c.1777G>T, NM_001320755.1:c.1777G>T, XM_017024980.2:c.1408G>T, XM_017024980.1:c.1408G>T, XM_047436604.1:c.1777G>T, XM_047436601.1:c.1777G>T, XM_047436600.1:c.1777G>T, XM_047436602.1:c.1777G>T, XM_047436603.1:c.1777G>T, XM_047436605.1:c.1777G>T, XM_047436599.1:c.1777G>T, XM_047436595.1:c.1777G>T, XM_047436597.1:c.1777G>T, XM_047436596.1:c.1777G>T, XM_047436606.1:c.1777G>T, XM_047436607.1:c.1777G>T, NP_003161.2:p.Ala593Ser, NP_001307684.1:p.Ala593Ser, XP_016880469.1:p.Ala470Ser, XP_047292560.1:p.Ala593Ser, XP_047292557.1:p.Ala593Ser, XP_047292556.1:p.Ala593Ser, XP_047292558.1:p.Ala593Ser, XP_047292559.1:p.Ala593Ser, XP_047292561.1:p.Ala593Ser, XP_047292555.1:p.Ala593Ser, XP_047292551.1:p.Ala593Ser, XP_047292553.1:p.Ala593Ser, XP_047292552.1:p.Ala593Ser, XP_047292562.1:p.Ala593Ser, XP_047292563.1:p.Ala593Ser

Select item 148198120013.

rs1481981200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28690226 (GRCh38)
17:27017244 (GRCh37)
Canonical SPDI:: NC_000017.11:28690225:A:G
Gene:: SUPT6H (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28690226A>G, NC_000017.10:g.27017244A>G, NM_003170.5:c.3487A>G, NM_003170.4:c.3487A>G, NM_003170.3:c.3487A>G, NM_001320755.2:c.3487A>G, NM_001320755.1:c.3487A>G, XM_017024980.2:c.3118A>G, XM_017024980.1:c.3118A>G, XM_047436604.1:c.3487A>G, XM_047436601.1:c.3487A>G, XM_047436600.1:c.3487A>G, XM_047436602.1:c.3487A>G, XM_047436603.1:c.3487A>G, XM_047436605.1:c.3487A>G, XM_047436599.1:c.3487A>G, XM_047436595.1:c.3487A>G, XM_047436597.1:c.3487A>G, XM_047436596.1:c.3487A>G, XM_047436606.1:c.3487A>G, NP_003161.2:p.Ile1163Val, NP_001307684.1:p.Ile1163Val, XP_016880469.1:p.Ile1040Val, XP_047292560.1:p.Ile1163Val, XP_047292557.1:p.Ile1163Val, XP_047292556.1:p.Ile1163Val, XP_047292558.1:p.Ile1163Val, XP_047292559.1:p.Ile1163Val, XP_047292561.1:p.Ile1163Val, XP_047292555.1:p.Ile1163Val, XP_047292551.1:p.Ile1163Val, XP_047292553.1:p.Ile1163Val, XP_047292552.1:p.Ile1163Val, XP_047292562.1:p.Ile1163Val

Select item 148127835614.

rs1481278356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:28697053 (GRCh38)
17:27024071 (GRCh37)
Canonical SPDI:: NC_000017.11:28697052:C:G,NC_000017.11:28697052:C:T
Gene:: SUPT6H (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000017.11:g.28697053C>G, NC_000017.11:g.28697053C>T, NC_000017.10:g.27024071C>G, NC_000017.10:g.27024071C>T, NM_003170.5:c.4180C>G, NM_003170.5:c.4180C>T, NM_003170.4:c.4180C>G, NM_003170.4:c.4180C>T, NM_003170.3:c.4180C>G, NM_003170.3:c.4180C>T, NM_001320755.2:c.4180C>G, NM_001320755.2:c.4180C>T, NM_001320755.1:c.4180C>G, NM_001320755.1:c.4180C>T, XM_017024980.2:c.3811C>G, XM_017024980.2:c.3811C>T, XM_017024980.1:c.3811C>G, XM_017024980.1:c.3811C>T, XM_047436604.1:c.4180C>G, XM_047436604.1:c.4180C>T, XM_047436601.1:c.4180C>G, XM_047436601.1:c.4180C>T, XM_047436600.1:c.4180C>G, XM_047436600.1:c.4180C>T, XM_047436602.1:c.4180C>G, XM_047436602.1:c.4180C>T, XM_047436603.1:c.4180C>G, XM_047436603.1:c.4180C>T, XM_047436605.1:c.4180C>G, XM_047436605.1:c.4180C>T, XM_047436599.1:c.4180C>G, XM_047436599.1:c.4180C>T, XM_047436595.1:c.4180C>G, XM_047436595.1:c.4180C>T, XM_047436597.1:c.4180C>G, XM_047436597.1:c.4180C>T, XM_047436596.1:c.4180C>G, XM_047436596.1:c.4180C>T, NP_003161.2:p.Leu1394Val, NP_001307684.1:p.Leu1394Val, XP_016880469.1:p.Leu1271Val, XP_047292560.1:p.Leu1394Val, XP_047292557.1:p.Leu1394Val, XP_047292556.1:p.Leu1394Val, XP_047292558.1:p.Leu1394Val, XP_047292559.1:p.Leu1394Val, XP_047292561.1:p.Leu1394Val, XP_047292555.1:p.Leu1394Val, XP_047292551.1:p.Leu1394Val, XP_047292553.1:p.Leu1394Val, XP_047292552.1:p.Leu1394Val

Select item 148092331615.

rs1480923316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28695374 (GRCh38)
17:27022392 (GRCh37)
Canonical SPDI:: NC_000017.11:28695373:G:A
Gene:: SUPT6H (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.28695374G>A, NC_000017.10:g.27022392G>A, NM_003170.5:c.3797G>A, NM_003170.4:c.3797G>A, NM_003170.3:c.3797G>A, NM_001320755.2:c.3797G>A, NM_001320755.1:c.3797G>A, XM_017024980.2:c.3428G>A, XM_017024980.1:c.3428G>A, XM_047436604.1:c.3797G>A, XM_047436601.1:c.3797G>A, XM_047436600.1:c.3797G>A, XM_047436602.1:c.3797G>A, XM_047436603.1:c.3797G>A, XM_047436605.1:c.3797G>A, XM_047436599.1:c.3797G>A, XM_047436595.1:c.3797G>A, XM_047436597.1:c.3797G>A, XM_047436596.1:c.3797G>A, XM_047436606.1:c.3819G>A, NP_003161.2:p.Arg1266His, NP_001307684.1:p.Arg1266His, XP_016880469.1:p.Arg1143His, XP_047292560.1:p.Arg1266His, XP_047292557.1:p.Arg1266His, XP_047292556.1:p.Arg1266His, XP_047292558.1:p.Arg1266His, XP_047292559.1:p.Arg1266His, XP_047292561.1:p.Arg1266His, XP_047292555.1:p.Arg1266His, XP_047292551.1:p.Arg1266His, XP_047292553.1:p.Arg1266His, XP_047292552.1:p.Arg1266His

Select item 148036144416.

rs1480361444 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:28683724 (GRCh38)
17:27010742 (GRCh37)
Canonical SPDI:: NC_000017.11:28683723:A:C,NC_000017.11:28683723:A:G
Gene:: SUPT6H (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00003/1 (ALFA)
HGVS:: NC_000017.11:g.28683724A>C, NC_000017.11:g.28683724A>G, NC_000017.10:g.27010742A>C, NC_000017.10:g.27010742A>G, NM_003170.5:c.2137A>C, NM_003170.5:c.2137A>G, NM_003170.4:c.2137A>C, NM_003170.4:c.2137A>G, NM_003170.3:c.2137A>C, NM_003170.3:c.2137A>G, NM_001320755.2:c.2137A>C, NM_001320755.2:c.2137A>G, NM_001320755.1:c.2137A>C, NM_001320755.1:c.2137A>G, XM_017024980.2:c.1768A>C, XM_017024980.2:c.1768A>G, XM_017024980.1:c.1768A>C, XM_017024980.1:c.1768A>G, XM_047436604.1:c.2137A>C, XM_047436604.1:c.2137A>G, XM_047436601.1:c.2137A>C, XM_047436601.1:c.2137A>G, XM_047436600.1:c.2137A>C, XM_047436600.1:c.2137A>G, XM_047436602.1:c.2137A>C, XM_047436602.1:c.2137A>G, XM_047436603.1:c.2137A>C, XM_047436603.1:c.2137A>G, XM_047436605.1:c.2137A>C, XM_047436605.1:c.2137A>G, XM_047436599.1:c.2137A>C, XM_047436599.1:c.2137A>G, XM_047436595.1:c.2137A>C, XM_047436595.1:c.2137A>G, XM_047436597.1:c.2137A>C, XM_047436597.1:c.2137A>G, XM_047436596.1:c.2137A>C, XM_047436596.1:c.2137A>G, XM_047436606.1:c.2137A>C, XM_047436606.1:c.2137A>G, XM_047436607.1:c.2137A>C, XM_047436607.1:c.2137A>G, NP_003161.2:p.Ile713Leu, NP_003161.2:p.Ile713Val, NP_001307684.1:p.Ile713Leu, NP_001307684.1:p.Ile713Val, XP_016880469.1:p.Ile590Leu, XP_016880469.1:p.Ile590Val, XP_047292560.1:p.Ile713Leu, XP_047292560.1:p.Ile713Val, XP_047292557.1:p.Ile713Leu, XP_047292557.1:p.Ile713Val, XP_047292556.1:p.Ile713Leu, XP_047292556.1:p.Ile713Val, XP_047292558.1:p.Ile713Leu, XP_047292558.1:p.Ile713Val, XP_047292559.1:p.Ile713Leu, XP_047292559.1:p.Ile713Val, XP_047292561.1:p.Ile713Leu, XP_047292561.1:p.Ile713Val, XP_047292555.1:p.Ile713Leu, XP_047292555.1:p.Ile713Val, XP_047292551.1:p.Ile713Leu, XP_047292551.1:p.Ile713Val, XP_047292553.1:p.Ile713Leu, XP_047292553.1:p.Ile713Val, XP_047292552.1:p.Ile713Leu, XP_047292552.1:p.Ile713Val, XP_047292562.1:p.Ile713Leu, XP_047292562.1:p.Ile713Val, XP_047292563.1:p.Ile713Leu, XP_047292563.1:p.Ile713Val

Select item 147924828817.

rs1479248288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:28677736 (GRCh38)
17:27004754 (GRCh37)
Canonical SPDI:: NC_000017.11:28677735:G:T
Gene:: SUPT6H (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28677736G>T, NC_000017.10:g.27004754G>T, NM_003170.5:c.919G>T, NM_003170.4:c.919G>T, NM_003170.3:c.919G>T, NM_001320755.2:c.919G>T, NM_001320755.1:c.919G>T, XM_017024980.2:c.550G>T, XM_017024980.1:c.550G>T, XM_047436604.1:c.919G>T, XM_047436601.1:c.919G>T, XM_047436600.1:c.919G>T, XM_047436602.1:c.919G>T, XM_047436603.1:c.919G>T, XM_047436605.1:c.919G>T, XM_047436599.1:c.919G>T, XM_047436595.1:c.919G>T, XM_047436597.1:c.919G>T, XM_047436596.1:c.919G>T, XM_047436606.1:c.919G>T, XM_047436607.1:c.919G>T, NP_003161.2:p.Gly307Trp, NP_001307684.1:p.Gly307Trp, XP_016880469.1:p.Gly184Trp, XP_047292560.1:p.Gly307Trp, XP_047292557.1:p.Gly307Trp, XP_047292556.1:p.Gly307Trp, XP_047292558.1:p.Gly307Trp, XP_047292559.1:p.Gly307Trp, XP_047292561.1:p.Gly307Trp, XP_047292555.1:p.Gly307Trp, XP_047292551.1:p.Gly307Trp, XP_047292553.1:p.Gly307Trp, XP_047292552.1:p.Gly307Trp, XP_047292562.1:p.Gly307Trp, XP_047292563.1:p.Gly307Trp

Select item 147840191418.

rs1478401914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28701095 (GRCh38)
17:27028113 (GRCh37)
Canonical SPDI:: NC_000017.11:28701094:C:T
Gene:: SUPT6H (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.28701095C>T, NC_000017.10:g.27028113C>T, NM_003170.5:c.4961C>T, NM_003170.4:c.4961C>T, NM_003170.3:c.4961C>T, NM_001320755.2:c.4961C>T, NM_001320755.1:c.4961C>T, XM_017024980.2:c.4592C>T, XM_017024980.1:c.4592C>T, XM_047436604.1:c.4961C>T, XM_047436601.1:c.4961C>T, XM_047436600.1:c.4961C>T, XM_047436602.1:c.4961C>T, XM_047436603.1:c.4961C>T, XM_047436605.1:c.4961C>T, XM_047436599.1:c.4961C>T, XM_047436595.1:c.4961C>T, XM_047436597.1:c.4961C>T, XM_047436596.1:c.4961C>T, NP_003161.2:p.Ser1654Phe, NP_001307684.1:p.Ser1654Phe, XP_016880469.1:p.Ser1531Phe, XP_047292560.1:p.Ser1654Phe, XP_047292557.1:p.Ser1654Phe, XP_047292556.1:p.Ser1654Phe, XP_047292558.1:p.Ser1654Phe, XP_047292559.1:p.Ser1654Phe, XP_047292561.1:p.Ser1654Phe, XP_047292555.1:p.Ser1654Phe, XP_047292551.1:p.Ser1654Phe, XP_047292553.1:p.Ser1654Phe, XP_047292552.1:p.Ser1654Phe

Select item 147771091619.

rs1477710916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28697912 (GRCh38)
17:27024930 (GRCh37)
Canonical SPDI:: NC_000017.11:28697911:G:A
Gene:: SUPT6H (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28697912G>A, NC_000017.10:g.27024930G>A, NM_003170.5:c.4330G>A, NM_003170.4:c.4330G>A, NM_003170.3:c.4330G>A, NM_001320755.2:c.4330G>A, NM_001320755.1:c.4330G>A, XM_017024980.2:c.3961G>A, XM_017024980.1:c.3961G>A, XM_047436604.1:c.4330G>A, XM_047436601.1:c.4330G>A, XM_047436600.1:c.4330G>A, XM_047436602.1:c.4330G>A, XM_047436603.1:c.4330G>A, XM_047436605.1:c.4330G>A, XM_047436599.1:c.4330G>A, XM_047436595.1:c.4330G>A, XM_047436597.1:c.4330G>A, XM_047436596.1:c.4330G>A, NP_003161.2:p.Glu1444Lys, NP_001307684.1:p.Glu1444Lys, XP_016880469.1:p.Glu1321Lys, XP_047292560.1:p.Glu1444Lys, XP_047292557.1:p.Glu1444Lys, XP_047292556.1:p.Glu1444Lys, XP_047292558.1:p.Glu1444Lys, XP_047292559.1:p.Glu1444Lys, XP_047292561.1:p.Glu1444Lys, XP_047292555.1:p.Glu1444Lys, XP_047292551.1:p.Glu1444Lys, XP_047292553.1:p.Glu1444Lys, XP_047292552.1:p.Glu1444Lys

Select item 147713353820.

rs1477133538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28698017 (GRCh38)
17:27025035 (GRCh37)
Canonical SPDI:: NC_000017.11:28698016:C:T
Gene:: SUPT6H (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28698017C>T, NC_000017.10:g.27025035C>T, NM_003170.5:c.4435C>T, NM_003170.4:c.4435C>T, NM_003170.3:c.4435C>T, NM_001320755.2:c.4435C>T, NM_001320755.1:c.4435C>T, XM_017024980.2:c.4066C>T, XM_017024980.1:c.4066C>T, XM_047436604.1:c.4435C>T, XM_047436601.1:c.4435C>T, XM_047436600.1:c.4435C>T, XM_047436602.1:c.4435C>T, XM_047436603.1:c.4435C>T, XM_047436605.1:c.4435C>T, XM_047436599.1:c.4435C>T, XM_047436595.1:c.4435C>T, XM_047436597.1:c.4435C>T, XM_047436596.1:c.4435C>T, NP_003161.2:p.Arg1479Trp, NP_001307684.1:p.Arg1479Trp, XP_016880469.1:p.Arg1356Trp, XP_047292560.1:p.Arg1479Trp, XP_047292557.1:p.Arg1479Trp, XP_047292556.1:p.Arg1479Trp, XP_047292558.1:p.Arg1479Trp, XP_047292559.1:p.Arg1479Trp, XP_047292561.1:p.Arg1479Trp, XP_047292555.1:p.Arg1479Trp, XP_047292551.1:p.Arg1479Trp, XP_047292553.1:p.Arg1479Trp, XP_047292552.1:p.Arg1479Trp

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dbSNP

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