SNP Links for Protein (Select 767942253) - SNP

Links from Protein

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Select item 14875293331.

rs1487529333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:114058079 (GRCh38)
6:114379243 (GRCh37)
Canonical SPDI:: NC_000006.12:114058078:C:A
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.114058079C>A, NC_000006.11:g.114379243C>A, NM_153612.4:c.219G>T, NM_153612.3:c.219G>T, XM_011535588.3:c.219G>T, XM_011535588.2:c.219G>T, XM_011535588.1:c.219G>T, XM_017010471.2:c.219G>T, XM_017010471.1:c.219G>T, NM_001387047.1:c.219G>T, NM_001387042.1:c.219G>T, NM_001387043.1:c.219G>T, NM_001387039.1:c.219G>T, NM_001387045.1:c.219G>T, NM_001387044.1:c.219G>T, NM_001387041.1:c.219G>T, NM_001387046.1:c.219G>T, NM_001387040.1:c.219G>T, NP_705840.2:p.Lys73Asn, XP_011533890.1:p.Lys73Asn, XP_016865960.1:p.Lys73Asn, NP_001373976.1:p.Lys73Asn, NP_001373971.1:p.Lys73Asn, NP_001373972.1:p.Lys73Asn, NP_001373968.1:p.Lys73Asn, NP_001373974.1:p.Lys73Asn, NP_001373973.1:p.Lys73Asn, NP_001373970.1:p.Lys73Asn, NP_001373975.1:p.Lys73Asn, NP_001373969.1:p.Lys73Asn

Select item 14860410792.

rs1486041079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:114057341 (GRCh38)
6:114378505 (GRCh37)
Canonical SPDI:: NC_000006.12:114057340:A:G,NC_000006.12:114057340:A:T
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.114057341A>G, NC_000006.12:g.114057341A>T, NC_000006.11:g.114378505A>G, NC_000006.11:g.114378505A>T, NM_153612.4:c.957T>C, NM_153612.4:c.957T>A, NM_153612.3:c.957T>C, NM_153612.3:c.957T>A, XM_011535588.3:c.957T>C, XM_011535588.3:c.957T>A, XM_011535588.2:c.957T>C, XM_011535588.2:c.957T>A, XM_011535588.1:c.957T>C, XM_011535588.1:c.957T>A, XM_017010471.2:c.957T>C, XM_017010471.2:c.957T>A, XM_017010471.1:c.957T>C, XM_017010471.1:c.957T>A, NM_001387047.1:c.957T>C, NM_001387047.1:c.957T>A, NM_001387042.1:c.957T>C, NM_001387042.1:c.957T>A, NM_001387043.1:c.957T>C, NM_001387043.1:c.957T>A, NM_001387039.1:c.957T>C, NM_001387039.1:c.957T>A, NM_001387045.1:c.957T>C, NM_001387045.1:c.957T>A, NM_001387044.1:c.957T>C, NM_001387044.1:c.957T>A, NM_001387041.1:c.957T>C, NM_001387041.1:c.957T>A, NM_001387046.1:c.957T>C, NM_001387046.1:c.957T>A, NM_001387040.1:c.957T>C, NM_001387040.1:c.957T>A

Select item 14825195333.

rs1482519533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:114057542 (GRCh38)
6:114378706 (GRCh37)
Canonical SPDI:: NC_000006.12:114057541:G:A
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.114057542G>A, NC_000006.11:g.114378706G>A, NM_153612.4:c.756C>T, NM_153612.3:c.756C>T, XM_011535588.3:c.756C>T, XM_011535588.2:c.756C>T, XM_011535588.1:c.756C>T, XM_017010471.2:c.756C>T, XM_017010471.1:c.756C>T, NM_001387047.1:c.756C>T, NM_001387042.1:c.756C>T, NM_001387043.1:c.756C>T, NM_001387039.1:c.756C>T, NM_001387045.1:c.756C>T, NM_001387044.1:c.756C>T, NM_001387041.1:c.756C>T, NM_001387046.1:c.756C>T, NM_001387040.1:c.756C>T

Select item 14799439364.

rs1479943936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:114057525 (GRCh38)
6:114378689 (GRCh37)
Canonical SPDI:: NC_000006.12:114057524:A:C
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.114057525A>C, NC_000006.11:g.114378689A>C, NM_153612.4:c.773T>G, NM_153612.3:c.773T>G, XM_011535588.3:c.773T>G, XM_011535588.2:c.773T>G, XM_011535588.1:c.773T>G, XM_017010471.2:c.773T>G, XM_017010471.1:c.773T>G, NM_001387047.1:c.773T>G, NM_001387042.1:c.773T>G, NM_001387043.1:c.773T>G, NM_001387039.1:c.773T>G, NM_001387045.1:c.773T>G, NM_001387044.1:c.773T>G, NM_001387041.1:c.773T>G, NM_001387046.1:c.773T>G, NM_001387040.1:c.773T>G, NP_705840.2:p.Leu258Arg, XP_011533890.1:p.Leu258Arg, XP_016865960.1:p.Leu258Arg, NP_001373976.1:p.Leu258Arg, NP_001373971.1:p.Leu258Arg, NP_001373972.1:p.Leu258Arg, NP_001373968.1:p.Leu258Arg, NP_001373974.1:p.Leu258Arg, NP_001373973.1:p.Leu258Arg, NP_001373970.1:p.Leu258Arg, NP_001373975.1:p.Leu258Arg, NP_001373969.1:p.Leu258Arg

Select item 14755064755.

rs1475506475 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 6:114057265 (GRCh38)
6:114378429 (GRCh37)
Canonical SPDI:: NC_000006.12:114057264:A:
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.114057265del, NC_000006.11:g.114378429del, NM_153612.4:c.1033del, NM_153612.3:c.1033del, XM_011535588.3:c.1033del, XM_011535588.2:c.1033del, XM_011535588.1:c.1033del, XM_017010471.2:c.1033del, XM_017010471.1:c.1033del, NM_001387047.1:c.1033del, NM_001387042.1:c.1033del, NM_001387043.1:c.1033del, NM_001387039.1:c.1033del, NM_001387045.1:c.1033del, NM_001387044.1:c.1033del, NM_001387041.1:c.1033del, NM_001387046.1:c.1033del, NM_001387040.1:c.1033del, NP_705840.2:p.Trp345fs, XP_011533890.1:p.Trp345fs, XP_016865960.1:p.Trp345fs, NP_001373976.1:p.Trp345fs, NP_001373971.1:p.Trp345fs, NP_001373972.1:p.Trp345fs, NP_001373968.1:p.Trp345fs, NP_001373974.1:p.Trp345fs, NP_001373973.1:p.Trp345fs, NP_001373970.1:p.Trp345fs, NP_001373975.1:p.Trp345fs, NP_001373969.1:p.Trp345fs

Select item 14713094446.

rs1471309444 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:114057966 (GRCh38)
6:114379130 (GRCh37)
Canonical SPDI:: NC_000006.12:114057965:T:C
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.114057966T>C, NC_000006.11:g.114379130T>C, NM_153612.4:c.332A>G, NM_153612.3:c.332A>G, XM_011535588.3:c.332A>G, XM_011535588.2:c.332A>G, XM_011535588.1:c.332A>G, XM_017010471.2:c.332A>G, XM_017010471.1:c.332A>G, NM_001387047.1:c.332A>G, NM_001387042.1:c.332A>G, NM_001387043.1:c.332A>G, NM_001387039.1:c.332A>G, NM_001387045.1:c.332A>G, NM_001387044.1:c.332A>G, NM_001387041.1:c.332A>G, NM_001387046.1:c.332A>G, NM_001387040.1:c.332A>G, NP_705840.2:p.Asn111Ser, XP_011533890.1:p.Asn111Ser, XP_016865960.1:p.Asn111Ser, NP_001373976.1:p.Asn111Ser, NP_001373971.1:p.Asn111Ser, NP_001373972.1:p.Asn111Ser, NP_001373968.1:p.Asn111Ser, NP_001373974.1:p.Asn111Ser, NP_001373973.1:p.Asn111Ser, NP_001373970.1:p.Asn111Ser, NP_001373975.1:p.Asn111Ser, NP_001373969.1:p.Asn111Ser

Select item 14655166927.

rs1465516692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:114058046 (GRCh38)
6:114379210 (GRCh37)
Canonical SPDI:: NC_000006.12:114058045:A:G
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.114058046A>G, NC_000006.11:g.114379210A>G, NM_153612.4:c.252T>C, NM_153612.3:c.252T>C, XM_011535588.3:c.252T>C, XM_011535588.2:c.252T>C, XM_011535588.1:c.252T>C, XM_017010471.2:c.252T>C, XM_017010471.1:c.252T>C, NM_001387047.1:c.252T>C, NM_001387042.1:c.252T>C, NM_001387043.1:c.252T>C, NM_001387039.1:c.252T>C, NM_001387045.1:c.252T>C, NM_001387044.1:c.252T>C, NM_001387041.1:c.252T>C, NM_001387046.1:c.252T>C, NM_001387040.1:c.252T>C

Select item 14642688188.

rs1464268818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:114062767 (GRCh38)
6:114383931 (GRCh37)
Canonical SPDI:: NC_000006.12:114062766:G:C
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.114062767G>C, NC_000006.11:g.114383931G>C, NM_153612.4:c.79C>G, NM_153612.3:c.79C>G, XM_011535588.3:c.79C>G, XM_011535588.2:c.79C>G, XM_011535588.1:c.79C>G, XM_017010471.2:c.79C>G, XM_017010471.1:c.79C>G, NM_001387047.1:c.79C>G, NM_001387042.1:c.79C>G, NM_001387043.1:c.79C>G, NM_001387039.1:c.79C>G, NM_001387045.1:c.79C>G, NM_001387044.1:c.79C>G, NM_001387041.1:c.79C>G, NM_001387046.1:c.79C>G, NM_001387040.1:c.79C>G, NP_705840.2:p.Leu27Val, XP_011533890.1:p.Leu27Val, XP_016865960.1:p.Leu27Val, NP_001373976.1:p.Leu27Val, NP_001373971.1:p.Leu27Val, NP_001373972.1:p.Leu27Val, NP_001373968.1:p.Leu27Val, NP_001373974.1:p.Leu27Val, NP_001373973.1:p.Leu27Val, NP_001373970.1:p.Leu27Val, NP_001373975.1:p.Leu27Val, NP_001373969.1:p.Leu27Val

Select item 14576869299.

rs1457686929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:114058186 (GRCh38)
6:114379350 (GRCh37)
Canonical SPDI:: NC_000006.12:114058185:G:T
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.114058186G>T, NC_000006.11:g.114379350G>T, NM_153612.4:c.112C>A, NM_153612.3:c.112C>A, XM_011535588.3:c.112C>A, XM_011535588.2:c.112C>A, XM_011535588.1:c.112C>A, XM_017010471.2:c.112C>A, XM_017010471.1:c.112C>A, NM_001387047.1:c.112C>A, NM_001387042.1:c.112C>A, NM_001387043.1:c.112C>A, NM_001387039.1:c.112C>A, NM_001387045.1:c.112C>A, NM_001387044.1:c.112C>A, NM_001387041.1:c.112C>A, NM_001387046.1:c.112C>A, NM_001387040.1:c.112C>A, NP_705840.2:p.Gln38Lys, XP_011533890.1:p.Gln38Lys, XP_016865960.1:p.Gln38Lys, NP_001373976.1:p.Gln38Lys, NP_001373971.1:p.Gln38Lys, NP_001373972.1:p.Gln38Lys, NP_001373968.1:p.Gln38Lys, NP_001373974.1:p.Gln38Lys, NP_001373973.1:p.Gln38Lys, NP_001373970.1:p.Gln38Lys, NP_001373975.1:p.Gln38Lys, NP_001373969.1:p.Gln38Lys

Select item 145006547310.

rs1450065473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:114058164 (GRCh38)
6:114379328 (GRCh37)
Canonical SPDI:: NC_000006.12:114058163:C:G,NC_000006.12:114058163:C:T
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.114058164C>G, NC_000006.12:g.114058164C>T, NC_000006.11:g.114379328C>G, NC_000006.11:g.114379328C>T, NM_153612.4:c.134G>C, NM_153612.4:c.134G>A, NM_153612.3:c.134G>C, NM_153612.3:c.134G>A, XM_011535588.3:c.134G>C, XM_011535588.3:c.134G>A, XM_011535588.2:c.134G>C, XM_011535588.2:c.134G>A, XM_011535588.1:c.134G>C, XM_011535588.1:c.134G>A, XM_017010471.2:c.134G>C, XM_017010471.2:c.134G>A, XM_017010471.1:c.134G>C, XM_017010471.1:c.134G>A, NM_001387047.1:c.134G>C, NM_001387047.1:c.134G>A, NM_001387042.1:c.134G>C, NM_001387042.1:c.134G>A, NM_001387043.1:c.134G>C, NM_001387043.1:c.134G>A, NM_001387039.1:c.134G>C, NM_001387039.1:c.134G>A, NM_001387045.1:c.134G>C, NM_001387045.1:c.134G>A, NM_001387044.1:c.134G>C, NM_001387044.1:c.134G>A, NM_001387041.1:c.134G>C, NM_001387041.1:c.134G>A, NM_001387046.1:c.134G>C, NM_001387046.1:c.134G>A, NM_001387040.1:c.134G>C, NM_001387040.1:c.134G>A, NP_705840.2:p.Gly45Ala, NP_705840.2:p.Gly45Asp, XP_011533890.1:p.Gly45Ala, XP_011533890.1:p.Gly45Asp, XP_016865960.1:p.Gly45Ala, XP_016865960.1:p.Gly45Asp, NP_001373976.1:p.Gly45Ala, NP_001373976.1:p.Gly45Asp, NP_001373971.1:p.Gly45Ala, NP_001373971.1:p.Gly45Asp, NP_001373972.1:p.Gly45Ala, NP_001373972.1:p.Gly45Asp, NP_001373968.1:p.Gly45Ala, NP_001373968.1:p.Gly45Asp, NP_001373974.1:p.Gly45Ala, NP_001373974.1:p.Gly45Asp, NP_001373973.1:p.Gly45Ala, NP_001373973.1:p.Gly45Asp, NP_001373970.1:p.Gly45Ala, NP_001373970.1:p.Gly45Asp, NP_001373975.1:p.Gly45Ala, NP_001373975.1:p.Gly45Asp, NP_001373969.1:p.Gly45Ala, NP_001373969.1:p.Gly45Asp

Select item 144528228611.

rs1445282286 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:114058169 (GRCh38)
6:114379333 (GRCh37)
Canonical SPDI:: NC_000006.12:114058168:A:G
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.114058169A>G, NC_000006.11:g.114379333A>G, NM_153612.4:c.129T>C, NM_153612.3:c.129T>C, XM_011535588.3:c.129T>C, XM_011535588.2:c.129T>C, XM_011535588.1:c.129T>C, XM_017010471.2:c.129T>C, XM_017010471.1:c.129T>C, NM_001387047.1:c.129T>C, NM_001387042.1:c.129T>C, NM_001387043.1:c.129T>C, NM_001387039.1:c.129T>C, NM_001387045.1:c.129T>C, NM_001387044.1:c.129T>C, NM_001387041.1:c.129T>C, NM_001387046.1:c.129T>C, NM_001387040.1:c.129T>C

Select item 143977683412.

rs1439776834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:114058030 (GRCh38)
6:114379194 (GRCh37)
Canonical SPDI:: NC_000006.12:114058029:G:A
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.114058030G>A, NC_000006.11:g.114379194G>A, NM_153612.4:c.268C>T, NM_153612.3:c.268C>T, XM_011535588.3:c.268C>T, XM_011535588.2:c.268C>T, XM_011535588.1:c.268C>T, XM_017010471.2:c.268C>T, XM_017010471.1:c.268C>T, NM_001387047.1:c.268C>T, NM_001387042.1:c.268C>T, NM_001387043.1:c.268C>T, NM_001387039.1:c.268C>T, NM_001387045.1:c.268C>T, NM_001387044.1:c.268C>T, NM_001387041.1:c.268C>T, NM_001387046.1:c.268C>T, NM_001387040.1:c.268C>T, NP_705840.2:p.Leu90Phe, XP_011533890.1:p.Leu90Phe, XP_016865960.1:p.Leu90Phe, NP_001373976.1:p.Leu90Phe, NP_001373971.1:p.Leu90Phe, NP_001373972.1:p.Leu90Phe, NP_001373968.1:p.Leu90Phe, NP_001373974.1:p.Leu90Phe, NP_001373973.1:p.Leu90Phe, NP_001373970.1:p.Leu90Phe, NP_001373975.1:p.Leu90Phe, NP_001373969.1:p.Leu90Phe

Select item 143943434513.

rs1439434345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:114058143 (GRCh38)
6:114379307 (GRCh37)
Canonical SPDI:: NC_000006.12:114058142:G:C,NC_000006.12:114058142:G:T
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.114058143G>C, NC_000006.12:g.114058143G>T, NC_000006.11:g.114379307G>C, NC_000006.11:g.114379307G>T, NM_153612.4:c.155C>G, NM_153612.4:c.155C>A, NM_153612.3:c.155C>G, NM_153612.3:c.155C>A, XM_011535588.3:c.155C>G, XM_011535588.3:c.155C>A, XM_011535588.2:c.155C>G, XM_011535588.2:c.155C>A, XM_011535588.1:c.155C>G, XM_011535588.1:c.155C>A, XM_017010471.2:c.155C>G, XM_017010471.2:c.155C>A, XM_017010471.1:c.155C>G, XM_017010471.1:c.155C>A, NM_001387047.1:c.155C>G, NM_001387047.1:c.155C>A, NM_001387042.1:c.155C>G, NM_001387042.1:c.155C>A, NM_001387043.1:c.155C>G, NM_001387043.1:c.155C>A, NM_001387039.1:c.155C>G, NM_001387039.1:c.155C>A, NM_001387045.1:c.155C>G, NM_001387045.1:c.155C>A, NM_001387044.1:c.155C>G, NM_001387044.1:c.155C>A, NM_001387041.1:c.155C>G, NM_001387041.1:c.155C>A, NM_001387046.1:c.155C>G, NM_001387046.1:c.155C>A, NM_001387040.1:c.155C>G, NM_001387040.1:c.155C>A, NP_705840.2:p.Thr52Ser, NP_705840.2:p.Thr52Asn, XP_011533890.1:p.Thr52Ser, XP_011533890.1:p.Thr52Asn, XP_016865960.1:p.Thr52Ser, XP_016865960.1:p.Thr52Asn, NP_001373976.1:p.Thr52Ser, NP_001373976.1:p.Thr52Asn, NP_001373971.1:p.Thr52Ser, NP_001373971.1:p.Thr52Asn, NP_001373972.1:p.Thr52Ser, NP_001373972.1:p.Thr52Asn, NP_001373968.1:p.Thr52Ser, NP_001373968.1:p.Thr52Asn, NP_001373974.1:p.Thr52Ser, NP_001373974.1:p.Thr52Asn, NP_001373973.1:p.Thr52Ser, NP_001373973.1:p.Thr52Asn, NP_001373970.1:p.Thr52Ser, NP_001373970.1:p.Thr52Asn, NP_001373975.1:p.Thr52Ser, NP_001373975.1:p.Thr52Asn, NP_001373969.1:p.Thr52Ser, NP_001373969.1:p.Thr52Asn

Select item 143938937214.

rs1439389372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:114057914 (GRCh38)
6:114379078 (GRCh37)
Canonical SPDI:: NC_000006.12:114057913:A:G
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.114057914A>G, NC_000006.11:g.114379078A>G, NM_153612.4:c.384T>C, NM_153612.3:c.384T>C, XM_011535588.3:c.384T>C, XM_011535588.2:c.384T>C, XM_011535588.1:c.384T>C, XM_017010471.2:c.384T>C, XM_017010471.1:c.384T>C, NM_001387047.1:c.384T>C, NM_001387042.1:c.384T>C, NM_001387043.1:c.384T>C, NM_001387039.1:c.384T>C, NM_001387045.1:c.384T>C, NM_001387044.1:c.384T>C, NM_001387041.1:c.384T>C, NM_001387046.1:c.384T>C, NM_001387040.1:c.384T>C

Select item 143785312915.

rs1437853129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:114057321 (GRCh38)
6:114378485 (GRCh37)
Canonical SPDI:: NC_000006.12:114057320:T:C
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.114057321T>C, NC_000006.11:g.114378485T>C, NM_153612.4:c.977A>G, NM_153612.3:c.977A>G, XM_011535588.3:c.977A>G, XM_011535588.2:c.977A>G, XM_011535588.1:c.977A>G, XM_017010471.2:c.977A>G, XM_017010471.1:c.977A>G, NM_001387047.1:c.977A>G, NM_001387042.1:c.977A>G, NM_001387043.1:c.977A>G, NM_001387039.1:c.977A>G, NM_001387045.1:c.977A>G, NM_001387044.1:c.977A>G, NM_001387041.1:c.977A>G, NM_001387046.1:c.977A>G, NM_001387040.1:c.977A>G, NP_705840.2:p.Lys326Arg, XP_011533890.1:p.Lys326Arg, XP_016865960.1:p.Lys326Arg, NP_001373976.1:p.Lys326Arg, NP_001373971.1:p.Lys326Arg, NP_001373972.1:p.Lys326Arg, NP_001373968.1:p.Lys326Arg, NP_001373974.1:p.Lys326Arg, NP_001373973.1:p.Lys326Arg, NP_001373970.1:p.Lys326Arg, NP_001373975.1:p.Lys326Arg, NP_001373969.1:p.Lys326Arg

Select item 143286679916.

rs1432866799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:114057879 (GRCh38)
6:114379043 (GRCh37)
Canonical SPDI:: NC_000006.12:114057878:C:T
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.114057879C>T, NC_000006.11:g.114379043C>T, NM_153612.4:c.419G>A, NM_153612.3:c.419G>A, XM_011535588.3:c.419G>A, XM_011535588.2:c.419G>A, XM_011535588.1:c.419G>A, XM_017010471.2:c.419G>A, XM_017010471.1:c.419G>A, NM_001387047.1:c.419G>A, NM_001387042.1:c.419G>A, NM_001387043.1:c.419G>A, NM_001387039.1:c.419G>A, NM_001387045.1:c.419G>A, NM_001387044.1:c.419G>A, NM_001387041.1:c.419G>A, NM_001387046.1:c.419G>A, NM_001387040.1:c.419G>A, NP_705840.2:p.Arg140Lys, XP_011533890.1:p.Arg140Lys, XP_016865960.1:p.Arg140Lys, NP_001373976.1:p.Arg140Lys, NP_001373971.1:p.Arg140Lys, NP_001373972.1:p.Arg140Lys, NP_001373968.1:p.Arg140Lys, NP_001373974.1:p.Arg140Lys, NP_001373973.1:p.Arg140Lys, NP_001373970.1:p.Arg140Lys, NP_001373975.1:p.Arg140Lys, NP_001373969.1:p.Arg140Lys

Select item 142593604217.

rs1425936042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:114057263 (GRCh38)
6:114378427 (GRCh37)
Canonical SPDI:: NC_000006.12:114057262:C:T
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.114057263C>T, NC_000006.11:g.114378427C>T, NM_153612.4:c.1035G>A, NM_153612.3:c.1035G>A, XM_011535588.3:c.1035G>A, XM_011535588.2:c.1035G>A, XM_011535588.1:c.1035G>A, XM_017010471.2:c.1035G>A, XM_017010471.1:c.1035G>A, NM_001387047.1:c.1035G>A, NM_001387042.1:c.1035G>A, NM_001387043.1:c.1035G>A, NM_001387039.1:c.1035G>A, NM_001387045.1:c.1035G>A, NM_001387044.1:c.1035G>A, NM_001387041.1:c.1035G>A, NM_001387046.1:c.1035G>A, NM_001387040.1:c.1035G>A, NP_705840.2:p.Trp345Ter, XP_011533890.1:p.Trp345Ter, XP_016865960.1:p.Trp345Ter, NP_001373976.1:p.Trp345Ter, NP_001373971.1:p.Trp345Ter, NP_001373972.1:p.Trp345Ter, NP_001373968.1:p.Trp345Ter, NP_001373974.1:p.Trp345Ter, NP_001373973.1:p.Trp345Ter, NP_001373970.1:p.Trp345Ter, NP_001373975.1:p.Trp345Ter, NP_001373969.1:p.Trp345Ter

Select item 140819946418.

rs1408199464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:114057452 (GRCh38)
6:114378616 (GRCh37)
Canonical SPDI:: NC_000006.12:114057451:G:C,NC_000006.12:114057451:G:T
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
HGVS:: NC_000006.12:g.114057452G>C, NC_000006.12:g.114057452G>T, NC_000006.11:g.114378616G>C, NC_000006.11:g.114378616G>T, NM_153612.4:c.846C>G, NM_153612.4:c.846C>A, NM_153612.3:c.846C>G, NM_153612.3:c.846C>A, XM_011535588.3:c.846C>G, XM_011535588.3:c.846C>A, XM_011535588.2:c.846C>G, XM_011535588.2:c.846C>A, XM_011535588.1:c.846C>G, XM_011535588.1:c.846C>A, XM_017010471.2:c.846C>G, XM_017010471.2:c.846C>A, XM_017010471.1:c.846C>G, XM_017010471.1:c.846C>A, NM_001387047.1:c.846C>G, NM_001387047.1:c.846C>A, NM_001387042.1:c.846C>G, NM_001387042.1:c.846C>A, NM_001387043.1:c.846C>G, NM_001387043.1:c.846C>A, NM_001387039.1:c.846C>G, NM_001387039.1:c.846C>A, NM_001387045.1:c.846C>G, NM_001387045.1:c.846C>A, NM_001387044.1:c.846C>G, NM_001387044.1:c.846C>A, NM_001387041.1:c.846C>G, NM_001387041.1:c.846C>A, NM_001387046.1:c.846C>G, NM_001387046.1:c.846C>A, NM_001387040.1:c.846C>G, NM_001387040.1:c.846C>A, NP_705840.2:p.Tyr282Ter, NP_705840.2:p.Tyr282Ter, XP_011533890.1:p.Tyr282Ter, XP_011533890.1:p.Tyr282Ter, XP_016865960.1:p.Tyr282Ter, XP_016865960.1:p.Tyr282Ter, NP_001373976.1:p.Tyr282Ter, NP_001373976.1:p.Tyr282Ter, NP_001373971.1:p.Tyr282Ter, NP_001373971.1:p.Tyr282Ter, NP_001373972.1:p.Tyr282Ter, NP_001373972.1:p.Tyr282Ter, NP_001373968.1:p.Tyr282Ter, NP_001373968.1:p.Tyr282Ter, NP_001373974.1:p.Tyr282Ter, NP_001373974.1:p.Tyr282Ter, NP_001373973.1:p.Tyr282Ter, NP_001373973.1:p.Tyr282Ter, NP_001373970.1:p.Tyr282Ter, NP_001373970.1:p.Tyr282Ter, NP_001373975.1:p.Tyr282Ter, NP_001373975.1:p.Tyr282Ter, NP_001373969.1:p.Tyr282Ter, NP_001373969.1:p.Tyr282Ter

Select item 140639202519.

rs1406392025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:114062782 (GRCh38)
6:114383946 (GRCh37)
Canonical SPDI:: NC_000006.12:114062781:C:A
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.114062782C>A, NC_000006.11:g.114383946C>A, NM_153612.4:c.64G>T, NM_153612.3:c.64G>T, XM_011535588.3:c.64G>T, XM_011535588.2:c.64G>T, XM_011535588.1:c.64G>T, XM_017010471.2:c.64G>T, XM_017010471.1:c.64G>T, NM_001387047.1:c.64G>T, NM_001387042.1:c.64G>T, NM_001387043.1:c.64G>T, NM_001387039.1:c.64G>T, NM_001387045.1:c.64G>T, NM_001387044.1:c.64G>T, NM_001387041.1:c.64G>T, NM_001387046.1:c.64G>T, NM_001387040.1:c.64G>T, NP_705840.2:p.Gly22Trp, XP_011533890.1:p.Gly22Trp, XP_016865960.1:p.Gly22Trp, NP_001373976.1:p.Gly22Trp, NP_001373971.1:p.Gly22Trp, NP_001373972.1:p.Gly22Trp, NP_001373968.1:p.Gly22Trp, NP_001373974.1:p.Gly22Trp, NP_001373973.1:p.Gly22Trp, NP_001373970.1:p.Gly22Trp, NP_001373975.1:p.Gly22Trp, NP_001373969.1:p.Gly22Trp

Select item 140620994520.

rs1406209945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:114057710 (GRCh38)
6:114378874 (GRCh37)
Canonical SPDI:: NC_000006.12:114057709:C:A,NC_000006.12:114057709:C:T
Gene:: HS3ST5 (Varview), HDAC2-AS2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.114057710C>A, NC_000006.12:g.114057710C>T, NC_000006.11:g.114378874C>A, NC_000006.11:g.114378874C>T, NM_153612.4:c.588G>T, NM_153612.4:c.588G>A, NM_153612.3:c.588G>T, NM_153612.3:c.588G>A, XM_011535588.3:c.588G>T, XM_011535588.3:c.588G>A, XM_011535588.2:c.588G>T, XM_011535588.2:c.588G>A, XM_011535588.1:c.588G>T, XM_011535588.1:c.588G>A, XM_017010471.2:c.588G>T, XM_017010471.2:c.588G>A, XM_017010471.1:c.588G>T, XM_017010471.1:c.588G>A, NM_001387047.1:c.588G>T, NM_001387047.1:c.588G>A, NM_001387042.1:c.588G>T, NM_001387042.1:c.588G>A, NM_001387043.1:c.588G>T, NM_001387043.1:c.588G>A, NM_001387039.1:c.588G>T, NM_001387039.1:c.588G>A, NM_001387045.1:c.588G>T, NM_001387045.1:c.588G>A, NM_001387044.1:c.588G>T, NM_001387044.1:c.588G>A, NM_001387041.1:c.588G>T, NM_001387041.1:c.588G>A, NM_001387046.1:c.588G>T, NM_001387046.1:c.588G>A, NM_001387040.1:c.588G>T, NM_001387040.1:c.588G>A

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