SNP Links for Protein (Select 14670350) - SNP

Links from Protein

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Select item 14895617111.

rs1489561711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:74700426 (GRCh38)
7:74114756 (GRCh37)
Canonical SPDI:: NC_000007.14:74700425:A:G
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.74700426A>G, NW_003871064.1:g.2229662A>G, NG_008179.2:g.47737A>G, NM_001518.5:c.553A>G, NM_001518.4:c.553A>G, NM_032999.4:c.553A>G, NM_032999.3:c.553A>G, NM_033000.4:c.553A>G, NM_033000.3:c.553A>G, NM_033001.4:c.553A>G, NM_033001.3:c.553A>G, NM_001163636.3:c.553A>G, NM_001163636.2:c.553A>G, NM_001280800.2:c.553A>G, NM_001280800.1:c.553A>G, NC_000007.13:g.74114756A>G, NM_033003.1:c.553A>G, NP_001509.3:p.Lys185Glu, NP_127492.1:p.Lys185Glu, NP_127493.1:p.Lys185Glu, NP_127494.1:p.Lys185Glu, NP_001157108.1:p.Lys185Glu, NP_001267729.1:p.Lys185Glu

Select item 14887268902.

rs1488726890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:74748053 (GRCh38)
7:74162390 (GRCh37)
Canonical SPDI:: NC_000007.14:74748052:A:G
Gene:: GTF2I (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.74748053A>G, NW_003871064.1:g.2277289A>G, NG_008179.2:g.95364A>G, NM_001518.5:c.1984A>G, NM_001518.4:c.1984A>G, NM_032999.4:c.2107A>G, NM_032999.3:c.2107A>G, NM_033000.4:c.2047A>G, NM_033000.3:c.2047A>G, NM_033001.4:c.2044A>G, NM_033001.3:c.2044A>G, NM_001163636.3:c.2041A>G, NM_001163636.2:c.2041A>G, NG_042249.1:g.14217A>G, NC_000007.13:g.74162390A>G, NP_001509.3:p.Thr662Ala, NP_127492.1:p.Thr703Ala, NP_127493.1:p.Thr683Ala, NP_127494.1:p.Thr682Ala, NP_001157108.1:p.Thr681Ala

Select item 14861756363.

rs1486175636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74691042 (GRCh38)
7:74105374 (GRCh37)
Canonical SPDI:: NC_000007.14:74691041:G:A
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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_000007.14:g.74691042G>A, NW_003871064.1:g.2220278G>A, NG_008179.2:g.38353G>A, NM_001518.5:c.169G>A, NM_001518.4:c.169G>A, NM_032999.4:c.169G>A, NM_032999.3:c.169G>A, NM_033000.4:c.169G>A, NM_033000.3:c.169G>A, NM_033001.4:c.169G>A, NM_033001.3:c.169G>A, NM_001163636.3:c.169G>A, NM_001163636.2:c.169G>A, NM_001280800.2:c.169G>A, NM_001280800.1:c.169G>A, NC_000007.13:g.74105374G>A, NM_033003.1:c.169G>A, NP_001509.3:p.Val57Ile, NP_127492.1:p.Val57Ile, NP_127493.1:p.Val57Ile, NP_127494.1:p.Val57Ile, NP_001157108.1:p.Val57Ile, NP_001267729.1:p.Val57Ile

Select item 14812992864.

rs1481299286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:74749047 (GRCh38)
7:74163384 (GRCh37)
Canonical SPDI:: NC_000007.14:74749046:G:A,NC_000007.14:74749046:G:C
Gene:: GTF2I (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.74749047G>A, NC_000007.14:g.74749047G>C, NW_003871064.1:g.2278283G>A, NW_003871064.1:g.2278283G>C, NG_008179.2:g.96358G>A, NG_008179.2:g.96358G>C, NM_001518.5:c.2070G>A, NM_001518.5:c.2070G>C, NM_001518.4:c.2070G>A, NM_001518.4:c.2070G>C, NM_032999.4:c.2193G>A, NM_032999.4:c.2193G>C, NM_032999.3:c.2193G>A, NM_032999.3:c.2193G>C, NM_033000.4:c.2133G>A, NM_033000.4:c.2133G>C, NM_033000.3:c.2133G>A, NM_033000.3:c.2133G>C, NM_033001.4:c.2130G>A, NM_033001.4:c.2130G>C, NM_033001.3:c.2130G>A, NM_033001.3:c.2130G>C, NM_001163636.3:c.2127G>A, NM_001163636.3:c.2127G>C, NM_001163636.2:c.2127G>A, NM_001163636.2:c.2127G>C, NG_042249.1:g.15211G>A, NG_042249.1:g.15211G>C, NC_000007.13:g.74163384G>A, NC_000007.13:g.74163384G>C

Select item 14724177675.

rs1472417767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:74736659 (GRCh38)
7:74151001 (GRCh37)
Canonical SPDI:: NC_000007.14:74736658:A:G
Gene:: GTF2I (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00069/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.74736659A>G, NW_003871064.1:g.2265895A>G, NG_008179.2:g.83970A>G, NM_001518.5:c.1472A>G, NM_001518.4:c.1472A>G, NM_032999.4:c.1595A>G, NM_032999.3:c.1595A>G, NM_033000.4:c.1535A>G, NM_033000.3:c.1535A>G, NM_033001.4:c.1532A>G, NM_033001.3:c.1532A>G, NM_001163636.3:c.1529A>G, NM_001163636.2:c.1529A>G, NG_042249.1:g.2823A>G, NC_000007.13:g.74151001A>G, NP_001509.3:p.Asn491Ser, NP_127492.1:p.Asn532Ser, NP_127493.1:p.Asn512Ser, NP_127494.1:p.Asn511Ser, NP_001157108.1:p.Asn510Ser

Select item 14667001806.

rs1466700180 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:74728860 (GRCh38)
7:74143198 (GRCh37)
Canonical SPDI:: NC_000007.14:74728859:A:C
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.74728860A>C, NW_003871064.1:g.2258096A>C, NG_008179.2:g.76171A>C, NM_001518.5:c.895A>C, NM_001518.4:c.895A>C, NM_032999.4:c.1018A>C, NM_032999.3:c.1018A>C, NM_033000.4:c.958A>C, NM_033000.3:c.958A>C, NM_033001.4:c.955A>C, NM_033001.3:c.955A>C, NM_001163636.3:c.952A>C, NM_001163636.2:c.952A>C, NC_000007.13:g.74143198A>C, NR_110044.1:n.59T>G, NP_001509.3:p.Asn299His, NP_127492.1:p.Asn340His, NP_127493.1:p.Asn320His, NP_127494.1:p.Asn319His, NP_001157108.1:p.Asn318His

Select item 14581121707.

rs1458112170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74699038 (GRCh38)
7:74113368 (GRCh37)
Canonical SPDI:: NC_000007.14:74699037:G:A
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.74699038G>A, NW_003871064.1:g.2228274G>A, NG_008179.2:g.46349G>A, NM_001518.5:c.316G>A, NM_001518.4:c.316G>A, NM_032999.4:c.316G>A, NM_032999.3:c.316G>A, NM_033000.4:c.316G>A, NM_033000.3:c.316G>A, NM_033001.4:c.316G>A, NM_033001.3:c.316G>A, NM_001163636.3:c.316G>A, NM_001163636.2:c.316G>A, NM_001280800.2:c.316G>A, NM_001280800.1:c.316G>A, NC_000007.13:g.74113368G>A, NM_033003.1:c.316G>A, NP_001509.3:p.Ala106Thr, NP_127492.1:p.Ala106Thr, NP_127493.1:p.Ala106Thr, NP_127494.1:p.Ala106Thr, NP_001157108.1:p.Ala106Thr, NP_001267729.1:p.Ala106Thr

Select item 14571306978.

rs1457130697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:74757963 (GRCh38)
7:74172296 (GRCh37)
Canonical SPDI:: NC_000007.14:74757962:A:G
Gene:: GTF2I (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.74757963A>G, NW_003871064.1:g.2287199A>G, NG_008179.2:g.105274A>G, NM_001518.5:c.2778A>G, NM_001518.4:c.2778A>G, NM_032999.4:c.2901A>G, NM_032999.3:c.2901A>G, NM_033000.4:c.2841A>G, NM_033000.3:c.2841A>G, NM_033001.4:c.2838A>G, NM_033001.3:c.2838A>G, NM_001163636.3:c.2835A>G, NM_001163636.2:c.2835A>G, NG_042249.1:g.24127A>G, NC_000007.13:g.74172296A>G

Select item 14511942669.

rs1451194266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:74689191 (GRCh38)
7:74103525 (GRCh37)
Canonical SPDI:: NC_000007.14:74689190:G:C,NC_000007.14:74689190:G:T
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.74689191G>C, NC_000007.14:g.74689191G>T, NW_003871064.1:g.2218427G>C, NW_003871064.1:g.2218427G>T, NG_008179.2:g.36502G>C, NG_008179.2:g.36502G>T, NM_001518.5:c.63G>C, NM_001518.5:c.63G>T, NM_001518.4:c.63G>C, NM_001518.4:c.63G>T, NM_032999.4:c.63G>C, NM_032999.4:c.63G>T, NM_032999.3:c.63G>C, NM_032999.3:c.63G>T, NM_033000.4:c.63G>C, NM_033000.4:c.63G>T, NM_033000.3:c.63G>C, NM_033000.3:c.63G>T, NM_033001.4:c.63G>C, NM_033001.4:c.63G>T, NM_033001.3:c.63G>C, NM_033001.3:c.63G>T, NM_001163636.3:c.63G>C, NM_001163636.3:c.63G>T, NM_001163636.2:c.63G>C, NM_001163636.2:c.63G>T, NM_001280800.2:c.63G>C, NM_001280800.2:c.63G>T, NM_001280800.1:c.63G>C, NM_001280800.1:c.63G>T, NC_000007.13:g.74103525G>C, NC_000007.13:g.74103525G>T, NM_033003.1:c.63G>C, NM_033003.1:c.63G>T, NR_110044.1:n.587C>G, NR_110044.1:n.587C>A, NP_001509.3:p.Met21Ile, NP_001509.3:p.Met21Ile, NP_127492.1:p.Met21Ile, NP_127492.1:p.Met21Ile, NP_127493.1:p.Met21Ile, NP_127493.1:p.Met21Ile, NP_127494.1:p.Met21Ile, NP_127494.1:p.Met21Ile, NP_001157108.1:p.Met21Ile, NP_001157108.1:p.Met21Ile, NP_001267729.1:p.Met21Ile, NP_001267729.1:p.Met21Ile

Select item 144514223910.

rs1445142239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74699030 (GRCh38)
7:74113360 (GRCh37)
Canonical SPDI:: NC_000007.14:74699029:G:A
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_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_000007.14:g.74699030G>A, NW_003871064.1:g.2228266G>A, NG_008179.2:g.46341G>A, NM_001518.5:c.308G>A, NM_001518.4:c.308G>A, NM_032999.4:c.308G>A, NM_032999.3:c.308G>A, NM_033000.4:c.308G>A, NM_033000.3:c.308G>A, NM_033001.4:c.308G>A, NM_033001.3:c.308G>A, NM_001163636.3:c.308G>A, NM_001163636.2:c.308G>A, NM_001280800.2:c.308G>A, NM_001280800.1:c.308G>A, NC_000007.13:g.74113360G>A, NM_033003.1:c.308G>A, NP_001509.3:p.Ser103Asn, NP_127492.1:p.Ser103Asn, NP_127493.1:p.Ser103Asn, NP_127494.1:p.Ser103Asn, NP_001157108.1:p.Ser103Asn, NP_001267729.1:p.Ser103Asn

Select item 144375203811.

rs1443752038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:74753147 (GRCh38)
7:74167479 (GRCh37)
Canonical SPDI:: NC_000007.14:74753146:C:T
Gene:: GTF2I (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.74753147C>T, NW_003871064.1:g.2282383C>T, NG_008179.2:g.100458C>T, NM_001518.5:c.2488C>T, NM_001518.4:c.2488C>T, NM_032999.4:c.2611C>T, NM_032999.3:c.2611C>T, NM_033000.4:c.2551C>T, NM_033000.3:c.2551C>T, NM_033001.4:c.2548C>T, NM_033001.3:c.2548C>T, NM_001163636.3:c.2545C>T, NM_001163636.2:c.2545C>T, NG_042249.1:g.19311C>T, NC_000007.13:g.74167479C>T, NP_001509.3:p.Gln830Ter, NP_127492.1:p.Gln871Ter, NP_127493.1:p.Gln851Ter, NP_127494.1:p.Gln850Ter, NP_001157108.1:p.Gln849Ter

Select item 144271307412.

rs1442713074 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:74730255 (GRCh38)
7:74144593 (GRCh37)
Canonical SPDI:: NC_000007.14:74730254:C:T
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.74730255C>T, NW_003871064.1:g.2259491C>T, NG_008179.2:g.77566C>T, NM_001518.5:c.958C>T, NM_001518.4:c.958C>T, NM_032999.4:c.1081C>T, NM_032999.3:c.1081C>T, NM_033000.4:c.1021C>T, NM_033000.3:c.1021C>T, NM_033001.4:c.1018C>T, NM_033001.3:c.1018C>T, NM_001163636.3:c.1015C>T, NM_001163636.2:c.1015C>T, NC_000007.13:g.74144593C>T

Select item 143932832213.

rs1439328322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:74743452 (GRCh38)
7:74157791 (GRCh37)
Canonical SPDI:: NC_000007.14:74743451:A:G
Gene:: GTF2I (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74743452A>G, NW_003871064.1:g.2272688A>G, NG_008179.2:g.90763A>G, NM_001518.5:c.1559A>G, NM_001518.4:c.1559A>G, NM_032999.4:c.1682A>G, NM_032999.3:c.1682A>G, NM_033000.4:c.1622A>G, NM_033000.3:c.1622A>G, NM_033001.4:c.1619A>G, NM_033001.3:c.1619A>G, NM_001163636.3:c.1616A>G, NM_001163636.2:c.1616A>G, NG_042249.1:g.9616A>G, NC_000007.13:g.74157791A>G, NP_001509.3:p.Lys520Arg, NP_127492.1:p.Lys561Arg, NP_127493.1:p.Lys541Arg, NP_127494.1:p.Lys540Arg, NP_001157108.1:p.Lys539Arg

Select item 143785127514.

rs1437851275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:74689142 (GRCh38)
7:74103476 (GRCh37)
Canonical SPDI:: NC_000007.14:74689141:C:G
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.74689142C>G, NW_003871064.1:g.2218378C>G, NG_008179.2:g.36453C>G, NM_001518.5:c.14C>G, NM_001518.4:c.14C>G, NM_032999.4:c.14C>G, NM_032999.3:c.14C>G, NM_033000.4:c.14C>G, NM_033000.3:c.14C>G, NM_033001.4:c.14C>G, NM_033001.3:c.14C>G, NM_001163636.3:c.14C>G, NM_001163636.2:c.14C>G, NM_001280800.2:c.14C>G, NM_001280800.1:c.14C>G, NC_000007.13:g.74103476C>G, NM_033003.1:c.14C>G, NR_110044.1:n.636G>C, NP_001509.3:p.Ala5Gly, NP_127492.1:p.Ala5Gly, NP_127493.1:p.Ala5Gly, NP_127494.1:p.Ala5Gly, NP_001157108.1:p.Ala5Gly, NP_001267729.1:p.Ala5Gly

Select item 143219371115.

rs1432193711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74749401 (GRCh38)
7:74163738 (GRCh37)
Canonical SPDI:: NC_000007.14:74749400:G:A
Gene:: GTF2I (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0011/13 (ALFA)
A=0.00109/7 (1000Genomes)
A=0.00119/1 (GnomAD_exomes)
A=0.00136/66 (GnomAD)
HGVS:: NC_000007.14:g.74749401G>A, NW_003871064.1:g.2278637G>A, NG_008179.2:g.96712G>A, NM_001518.5:c.2247G>A, NM_001518.4:c.2247G>A, NM_032999.4:c.2370G>A, NM_032999.3:c.2370G>A, NM_033000.4:c.2310G>A, NM_033000.3:c.2310G>A, NM_033001.4:c.2307G>A, NM_033001.3:c.2307G>A, NM_001163636.3:c.2304G>A, NM_001163636.2:c.2304G>A, NG_042249.1:g.15565G>A, NC_000007.13:g.74163738G>A

Select item 141797579416.

rs1417975794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:74732617 (GRCh38)
7:74146958 (GRCh37)
Canonical SPDI:: NC_000007.14:74732616:A:G
Gene:: GTF2I (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74732617A>G, NW_003871064.1:g.2261853A>G, NG_008179.2:g.79928A>G, NM_001518.5:c.1136A>G, NM_001518.4:c.1136A>G, NM_032999.4:c.1259A>G, NM_032999.3:c.1259A>G, NM_033000.4:c.1199A>G, NM_033000.3:c.1199A>G, NM_033001.4:c.1196A>G, NM_033001.3:c.1196A>G, NM_001163636.3:c.1193A>G, NM_001163636.2:c.1193A>G, NC_000007.13:g.74146958A>G, NP_001509.3:p.Glu379Gly, NP_127492.1:p.Glu420Gly, NP_127493.1:p.Glu400Gly, NP_127494.1:p.Glu399Gly, NP_001157108.1:p.Glu398Gly

Select item 141741684417.

rs1417416844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:74700372 (GRCh38)
7:74114702 (GRCh37)
Canonical SPDI:: NC_000007.14:74700371:C:G
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.74700372C>G, NW_003871064.1:g.2229608C>G, NG_008179.2:g.47683C>G, NM_001518.5:c.499C>G, NM_001518.4:c.499C>G, NM_032999.4:c.499C>G, NM_032999.3:c.499C>G, NM_033000.4:c.499C>G, NM_033000.3:c.499C>G, NM_033001.4:c.499C>G, NM_033001.3:c.499C>G, NM_001163636.3:c.499C>G, NM_001163636.2:c.499C>G, NM_001280800.2:c.499C>G, NM_001280800.1:c.499C>G, NC_000007.13:g.74114702C>G, NM_033003.1:c.499C>G, NR_110044.1:n.344G>C, NP_001509.3:p.Leu167Val, NP_127492.1:p.Leu167Val, NP_127493.1:p.Leu167Val, NP_127494.1:p.Leu167Val, NP_001157108.1:p.Leu167Val, NP_001267729.1:p.Leu167Val

Select item 141252642218.

rs1412526422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:74705174 (GRCh38)
7:74119506 (GRCh37)
Canonical SPDI:: NC_000007.14:74705173:G:C
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.74705174G>C, NW_003871064.1:g.2234410G>C, NG_008179.2:g.52485G>C, NM_001518.5:c.597G>C, NM_001518.4:c.597G>C, NM_032999.4:c.597G>C, NM_032999.3:c.597G>C, NM_033000.4:c.597G>C, NM_033000.3:c.597G>C, NM_033001.4:c.597G>C, NM_033001.3:c.597G>C, NM_001163636.3:c.597G>C, NM_001163636.2:c.597G>C, NM_001280800.2:c.597G>C, NM_001280800.1:c.597G>C, NC_000007.13:g.74119506G>C, NM_033003.1:c.597G>C

Select item 141123262419.

rs1411232624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:74749027 (GRCh38)
7:74163364 (GRCh37)
Canonical SPDI:: NC_000007.14:74749026:G:T
Gene:: GTF2I (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.0001/5 (GnomAD)
HGVS:: NC_000007.14:g.74749027G>T, NW_003871064.1:g.2278263G>T, NG_008179.2:g.96338G>T, NM_001518.5:c.2050G>T, NM_001518.4:c.2050G>T, NM_032999.4:c.2173G>T, NM_032999.3:c.2173G>T, NM_033000.4:c.2113G>T, NM_033000.3:c.2113G>T, NM_033001.4:c.2110G>T, NM_033001.3:c.2110G>T, NM_001163636.3:c.2107G>T, NM_001163636.2:c.2107G>T, NG_042249.1:g.15191G>T, NC_000007.13:g.74163364G>T, NP_001509.3:p.Ala684Ser, NP_127492.1:p.Ala725Ser, NP_127493.1:p.Ala705Ser, NP_127494.1:p.Ala704Ser, NP_001157108.1:p.Ala703Ser

Select item 140592638620.

rs1405926386 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:74753164 (GRCh38)
7:74167496 (GRCh37)
Canonical SPDI:: NC_000007.14:74753163:T:C
Gene:: GTF2I (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.74753164T>C, NW_003871064.1:g.2282400T>C, NG_008179.2:g.100475T>C, NM_001518.5:c.2505T>C, NM_001518.4:c.2505T>C, NM_032999.4:c.2628T>C, NM_032999.3:c.2628T>C, NM_033000.4:c.2568T>C, NM_033000.3:c.2568T>C, NM_033001.4:c.2565T>C, NM_033001.3:c.2565T>C, NM_001163636.3:c.2562T>C, NM_001163636.2:c.2562T>C, NG_042249.1:g.19328T>C, NC_000007.13:g.74167496T>C

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