SNP Links for Protein (Select 301601620) - SNP

Links from Protein

Items: 1 to 20 of 508

<< First< Prev

Page of 26

Next >Last >>

Select item 14905734771.

rs1490573477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:48621269 (GRCh38)
2:48848408 (GRCh37)
Canonical SPDI:: NC_000002.12:48621268:C:G
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.48621269C>G, NC_000002.11:g.48848408C>G, NG_033050.2:g.96345C>G, NM_172311.3:c.2338C>G, NM_172311.2:c.2338C>G, NM_001198593.2:c.2338C>G, NM_001198593.1:c.2338C>G, NM_001198594.1:c.2338C>G, NM_006872.5:c.226C>G, NM_006872.4:c.226C>G, NM_006872.3:c.226C>G, NM_001193487.3:c.124C>G, NM_001193487.2:c.124C>G, NM_001193487.1:c.124C>G, NM_172196.1:c.226C>G, NP_758515.1:p.Gln780Glu, NP_001185522.1:p.Gln780Glu, NP_001185523.1:p.Gln780Glu, NP_006863.2:p.Gln76Glu, NP_001180416.1:p.Gln42Glu

Select item 14892573692.

rs1489257369 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:48645083 (GRCh38)
2:48872222 (GRCh37)
Canonical SPDI:: NC_000002.12:48645082:T:C
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.48645083T>C, NC_000002.11:g.48872222T>C, NG_033050.2:g.120159T>C, NM_172311.3:c.2466T>C, NM_172311.2:c.2466T>C, NM_001198593.2:c.2466T>C, NM_001198593.1:c.2466T>C, NM_006872.5:c.354T>C, NM_006872.4:c.354T>C, NM_006872.3:c.354T>C, NM_001193487.3:c.252T>C, NM_001193487.2:c.252T>C, NM_001193487.1:c.252T>C, NM_172196.1:c.354T>C

Select item 14884625743.

rs1488462574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:48621264 (GRCh38)
2:48848403 (GRCh37)
Canonical SPDI:: NC_000002.12:48621263:T:G
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.48621264T>G, NC_000002.11:g.48848403T>G, NG_033050.2:g.96340T>G, NM_172311.3:c.2333T>G, NM_172311.2:c.2333T>G, NM_001198593.2:c.2333T>G, NM_001198593.1:c.2333T>G, NM_001198594.1:c.2333T>G, NM_006872.5:c.221T>G, NM_006872.4:c.221T>G, NM_006872.3:c.221T>G, NM_001193487.3:c.119T>G, NM_001193487.2:c.119T>G, NM_001193487.1:c.119T>G, NM_172196.1:c.221T>G, NP_758515.1:p.Leu778Trp, NP_001185522.1:p.Leu778Trp, NP_001185523.1:p.Leu778Trp, NP_006863.2:p.Leu74Trp, NP_001180416.1:p.Leu40Trp

Select item 14884362254.

rs1488436225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:48669728 (GRCh38)
2:48896867 (GRCh37)
Canonical SPDI:: NC_000002.12:48669727:A:G
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.48669728A>G, NC_000002.11:g.48896867A>G, NG_033050.2:g.144804A>G, NM_172311.3:c.3097A>G, NM_172311.2:c.3097A>G, NM_001198593.2:c.3097A>G, NM_001198593.1:c.3097A>G, NM_001198594.1:c.2956A>G, NM_006872.5:c.985A>G, NM_006872.4:c.985A>G, NM_006872.3:c.985A>G, NM_001193487.3:c.883A>G, NM_001193487.2:c.883A>G, NM_001193487.1:c.883A>G, NM_172196.1:c.985A>G, NP_758515.1:p.Asn1033Asp, NP_001185522.1:p.Asn1033Asp, NP_001185523.1:p.Asn986Asp, NP_006863.2:p.Asn329Asp, NP_001180416.1:p.Asn295Asp

Select item 14823283235.

rs1482328323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:48642412 (GRCh38)
2:48869551 (GRCh37)
Canonical SPDI:: NC_000002.12:48642411:T:C
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.48642412T>C, NC_000002.11:g.48869551T>C, NG_033050.2:g.117488T>C, NM_172311.3:c.2370T>C, NM_172311.2:c.2370T>C, NM_001198593.2:c.2370T>C, NM_001198593.1:c.2370T>C, NM_006872.5:c.258T>C, NM_006872.4:c.258T>C, NM_006872.3:c.258T>C, NM_001193487.3:c.156T>C, NM_001193487.2:c.156T>C, NM_001193487.1:c.156T>C, NM_172196.1:c.258T>C

Select item 14809149306.

rs1480914930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:48621225 (GRCh38)
2:48848364 (GRCh37)
Canonical SPDI:: NC_000002.12:48621224:T:C
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.48621225T>C, NC_000002.11:g.48848364T>C, NG_033050.2:g.96301T>C, NM_172311.3:c.2294T>C, NM_172311.2:c.2294T>C, NM_001198593.2:c.2294T>C, NM_001198593.1:c.2294T>C, NM_001198594.1:c.2294T>C, NM_006872.5:c.182T>C, NM_006872.4:c.182T>C, NM_006872.3:c.182T>C, NM_001193487.3:c.80T>C, NM_001193487.2:c.80T>C, NM_001193487.1:c.80T>C, NM_172196.1:c.182T>C, NP_758515.1:p.Ile765Thr, NP_001185522.1:p.Ile765Thr, NP_001185523.1:p.Ile765Thr, NP_006863.2:p.Ile61Thr, NP_001180416.1:p.Ile27Thr

Select item 14750405587.

rs1475040558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:48646649 (GRCh38)
2:48873788 (GRCh37)
Canonical SPDI:: NC_000002.12:48646648:G:A
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.48646649G>A, NC_000002.11:g.48873788G>A, NG_033050.2:g.121725G>A, NM_172311.3:c.2697G>A, NM_172311.2:c.2697G>A, NM_001198593.2:c.2697G>A, NM_001198593.1:c.2697G>A, NM_001198594.1:c.2556G>A, NM_006872.5:c.585G>A, NM_006872.4:c.585G>A, NM_006872.3:c.585G>A, NM_001193487.3:c.483G>A, NM_001193487.2:c.483G>A, NM_001193487.1:c.483G>A, NM_172196.1:c.585G>A

Select item 14725150558.

rs1472515055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:48646820 (GRCh38)
2:48873959 (GRCh37)
Canonical SPDI:: NC_000002.12:48646819:G:T
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.48646820G>T, NC_000002.11:g.48873959G>T, NG_033050.2:g.121896G>T, NM_172311.3:c.2868G>T, NM_172311.2:c.2868G>T, NM_001198593.2:c.2868G>T, NM_001198593.1:c.2868G>T, NM_001198594.1:c.2727G>T, NM_006872.5:c.756G>T, NM_006872.4:c.756G>T, NM_006872.3:c.756G>T, NM_001193487.3:c.654G>T, NM_001193487.2:c.654G>T, NM_001193487.1:c.654G>T, NM_172196.1:c.756G>T, NP_758515.1:p.Gln956His, NP_001185522.1:p.Gln956His, NP_001185523.1:p.Gln909His, NP_006863.2:p.Gln252His, NP_001180416.1:p.Gln218His

Select item 14702602719.

rs1470260271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:48669807 (GRCh38)
2:48896946 (GRCh37)
Canonical SPDI:: NC_000002.12:48669806:C:A
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.48669807C>A, NC_000002.11:g.48896946C>A, NG_033050.2:g.144883C>A, NM_172311.3:c.3176C>A, NM_172311.2:c.3176C>A, NM_001198593.2:c.3176C>A, NM_001198593.1:c.3176C>A, NM_001198594.1:c.3035C>A, NM_006872.5:c.1064C>A, NM_006872.4:c.1064C>A, NM_006872.3:c.1064C>A, NM_001193487.3:c.962C>A, NM_001193487.2:c.962C>A, NM_001193487.1:c.962C>A, NM_172196.1:c.1064C>A, NP_758515.1:p.Thr1059Lys, NP_001185522.1:p.Thr1059Lys, NP_001185523.1:p.Thr1012Lys, NP_006863.2:p.Thr355Lys, NP_001180416.1:p.Thr321Lys

Select item 147020018910.

rs1470200189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:48646630 (GRCh38)
2:48873769 (GRCh37)
Canonical SPDI:: NC_000002.12:48646629:G:T
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: coding_sequence_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)
HGVS:: NC_000002.12:g.48646630G>T, NC_000002.11:g.48873769G>T, NG_033050.2:g.121706G>T, NM_172311.3:c.2678G>T, NM_172311.2:c.2678G>T, NM_001198593.2:c.2678G>T, NM_001198593.1:c.2678G>T, NM_001198594.1:c.2537G>T, NM_006872.5:c.566G>T, NM_006872.4:c.566G>T, NM_006872.3:c.566G>T, NM_001193487.3:c.464G>T, NM_001193487.2:c.464G>T, NM_001193487.1:c.464G>T, NM_172196.1:c.566G>T, NP_758515.1:p.Arg893Ile, NP_001185522.1:p.Arg893Ile, NP_001185523.1:p.Arg846Ile, NP_006863.2:p.Arg189Ile, NP_001180416.1:p.Arg155Ile

Select item 146866745511.

rs1468667455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:48646881 (GRCh38)
2:48874020 (GRCh37)
Canonical SPDI:: NC_000002.12:48646880:A:C
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.48646881A>C, NC_000002.11:g.48874020A>C, NG_033050.2:g.121957A>C, NM_172311.3:c.2929A>C, NM_172311.2:c.2929A>C, NM_001198593.2:c.2929A>C, NM_001198593.1:c.2929A>C, NM_001198594.1:c.2788A>C, NM_006872.5:c.817A>C, NM_006872.4:c.817A>C, NM_006872.3:c.817A>C, NM_001193487.3:c.715A>C, NM_001193487.2:c.715A>C, NM_001193487.1:c.715A>C, NM_172196.1:c.817A>C, NP_758515.1:p.Asn977His, NP_001185522.1:p.Asn977His, NP_001185523.1:p.Asn930His, NP_006863.2:p.Asn273His, NP_001180416.1:p.Asn239His

Select item 146766636412.

rs1467666364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:48645073 (GRCh38)
2:48872212 (GRCh37)
Canonical SPDI:: NC_000002.12:48645072:A:G
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.48645073A>G, NC_000002.11:g.48872212A>G, NG_033050.2:g.120149A>G, NM_172311.3:c.2456A>G, NM_172311.2:c.2456A>G, NM_001198593.2:c.2456A>G, NM_001198593.1:c.2456A>G, NM_006872.5:c.344A>G, NM_006872.4:c.344A>G, NM_006872.3:c.344A>G, NM_001193487.3:c.242A>G, NM_001193487.2:c.242A>G, NM_001193487.1:c.242A>G, NM_172196.1:c.344A>G, NP_758515.1:p.Tyr819Cys, NP_001185522.1:p.Tyr819Cys, NP_006863.2:p.Tyr115Cys, NP_001180416.1:p.Tyr81Cys

Select item 146588733113.

rs1465887331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:48669864 (GRCh38)
2:48897003 (GRCh37)
Canonical SPDI:: NC_000002.12:48669863:G:A
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.48669864G>A, NC_000002.11:g.48897003G>A, NG_033050.2:g.144940G>A, NM_172311.3:c.3233G>A, NM_172311.2:c.3233G>A, NM_001198593.2:c.3233G>A, NM_001198593.1:c.3233G>A, NM_001198594.1:c.3092G>A, NM_006872.5:c.1121G>A, NM_006872.4:c.1121G>A, NM_006872.3:c.1121G>A, NM_001193487.3:c.1019G>A, NM_001193487.2:c.1019G>A, NM_001193487.1:c.1019G>A, NM_172196.1:c.1121G>A, NP_758515.1:p.Gly1078Glu, NP_001185522.1:p.Gly1078Glu, NP_001185523.1:p.Gly1031Glu, NP_006863.2:p.Gly374Glu, NP_001180416.1:p.Gly340Glu

Select item 146440580214.

rs1464405802 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:48646915 (GRCh38)
2:48874054 (GRCh37)
Canonical SPDI:: NC_000002.12:48646914:A:T
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.48646915A>T, NC_000002.11:g.48874054A>T, NG_033050.2:g.121991A>T, NM_172311.3:c.2963A>T, NM_172311.2:c.2963A>T, NM_001198593.2:c.2963A>T, NM_001198593.1:c.2963A>T, NM_001198594.1:c.2822A>T, NM_006872.5:c.851A>T, NM_006872.4:c.851A>T, NM_006872.3:c.851A>T, NM_001193487.3:c.749A>T, NM_001193487.2:c.749A>T, NM_001193487.1:c.749A>T, NM_172196.1:c.851A>T, NP_758515.1:p.His988Leu, NP_001185522.1:p.His988Leu, NP_001185523.1:p.His941Leu, NP_006863.2:p.His284Leu, NP_001180416.1:p.His250Leu

Select item 146345458915.

rs1463454589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:48679364 (GRCh38)
2:48906503 (GRCh37)
Canonical SPDI:: NC_000002.12:48679363:C:T
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.48679364C>T, NC_000002.11:g.48906503C>T, NG_033050.2:g.154440C>T, NM_172311.3:c.3471C>T, NM_172311.2:c.3471C>T, NM_001198594.1:c.3330C>T, NM_006872.5:c.1359C>T, NM_006872.4:c.1359C>T, NM_006872.3:c.1359C>T, NM_001193487.3:c.1257C>T, NM_001193487.2:c.1257C>T, NM_001193487.1:c.1257C>T

Select item 146311200116.

rs1463112001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:48646487 (GRCh38)
2:48873626 (GRCh37)
Canonical SPDI:: NC_000002.12:48646486:G:C,NC_000002.12:48646486:G:T
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.48646487G>C, NC_000002.12:g.48646487G>T, NC_000002.11:g.48873626G>C, NC_000002.11:g.48873626G>T, NG_033050.2:g.121563G>C, NG_033050.2:g.121563G>T, NM_172311.3:c.2535G>C, NM_172311.3:c.2535G>T, NM_172311.2:c.2535G>C, NM_172311.2:c.2535G>T, NM_001198593.2:c.2535G>C, NM_001198593.2:c.2535G>T, NM_001198593.1:c.2535G>C, NM_001198593.1:c.2535G>T, NM_001198594.1:c.2394G>C, NM_001198594.1:c.2394G>T, NM_006872.5:c.423G>C, NM_006872.5:c.423G>T, NM_006872.4:c.423G>C, NM_006872.4:c.423G>T, NM_006872.3:c.423G>C, NM_006872.3:c.423G>T, NM_001193487.3:c.321G>C, NM_001193487.3:c.321G>T, NM_001193487.2:c.321G>C, NM_001193487.2:c.321G>T, NM_001193487.1:c.321G>C, NM_001193487.1:c.321G>T, NM_172196.1:c.423G>C, NM_172196.1:c.423G>T

Select item 146100295517.

rs1461002955 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:48669921 (GRCh38)
2:48897060 (GRCh37)
Canonical SPDI:: NC_000002.12:48669920:A:T
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: coding_sequence_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)
HGVS:: NC_000002.12:g.48669921A>T, NC_000002.11:g.48897060A>T, NG_033050.2:g.144997A>T, NM_172311.3:c.3290A>T, NM_172311.2:c.3290A>T, NM_001198593.2:c.3290A>T, NM_001198593.1:c.3290A>T, NM_001198594.1:c.3149A>T, NM_006872.5:c.1178A>T, NM_006872.4:c.1178A>T, NM_006872.3:c.1178A>T, NM_001193487.3:c.1076A>T, NM_001193487.2:c.1076A>T, NM_001193487.1:c.1076A>T, NM_172196.1:c.1178A>T, NP_758515.1:p.Asn1097Ile, NP_001185522.1:p.Asn1097Ile, NP_001185523.1:p.Asn1050Ile, NP_006863.2:p.Asn393Ile, NP_001180416.1:p.Asn359Ile

Select item 145660102218.

rs1456601022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:48679375 (GRCh38)
2:48906514 (GRCh37)
Canonical SPDI:: NC_000002.12:48679374:A:G
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.48679375A>G, NC_000002.11:g.48906514A>G, NG_033050.2:g.154451A>G, NM_172311.3:c.3482A>G, NM_172311.2:c.3482A>G, NM_001198594.1:c.3341A>G, NM_006872.5:c.1370A>G, NM_006872.4:c.1370A>G, NM_006872.3:c.1370A>G, NM_001193487.3:c.1268A>G, NM_001193487.2:c.1268A>G, NM_001193487.1:c.1268A>G, NP_758515.1:p.Asp1161Gly, NP_001185523.1:p.Asp1114Gly, NP_006863.2:p.Asp457Gly, NP_001180416.1:p.Asp423Gly

Select item 145336853119.

rs1453368531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:48646562 (GRCh38)
2:48873701 (GRCh37)
Canonical SPDI:: NC_000002.12:48646561:A:G
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.48646562A>G, NC_000002.11:g.48873701A>G, NG_033050.2:g.121638A>G, NM_172311.3:c.2610A>G, NM_172311.2:c.2610A>G, NM_001198593.2:c.2610A>G, NM_001198593.1:c.2610A>G, NM_001198594.1:c.2469A>G, NM_006872.5:c.498A>G, NM_006872.4:c.498A>G, NM_006872.3:c.498A>G, NM_001193487.3:c.396A>G, NM_001193487.2:c.396A>G, NM_001193487.1:c.396A>G, NM_172196.1:c.498A>G

Select item 145321769620.

rs1453217696 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:48679409 (GRCh38)
2:48906548 (GRCh37)
Canonical SPDI:: NC_000002.12:48679408:A:G
Gene:: GTF2A1L (Varview), STON1-GTF2A1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.48679409A>G, NC_000002.11:g.48906548A>G, NG_033050.2:g.154485A>G, NM_172311.3:c.3516A>G, NM_172311.2:c.3516A>G, NM_001198594.1:c.3375A>G, NM_006872.5:c.1404A>G, NM_006872.4:c.1404A>G, NM_006872.3:c.1404A>G, NM_001193487.3:c.1302A>G, NM_001193487.2:c.1302A>G, NM_001193487.1:c.1302A>G

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 508

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity