SNP Links for Protein (Select 1229732661) - SNP

Select item 12563275511.

rs1256327551 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49571605 (GRCh38)
X:49336208 (GRCh37)
Canonical SPDI:: NC_000023.11:49571604:T:C
Gene:: GAGE12G (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.00219/26 (ALFA)
HGVS:: NC_000023.11:g.49571605T>C, NW_004070880.2:g.1761034T>C, NC_000023.10:g.49336208T>C, NM_001098409.4:c.51T>C, NM_001098409.3:c.51T>C, NM_001098409.2:c.51T>C, NM_001098409.1:c.51T>C, NM_001354422.1:c.51T>C

Select item 12172868362.

rs1217286836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49572190 (GRCh38)
X:49336793 (GRCh37)
Canonical SPDI:: NC_000023.11:49572189:G:A
Gene:: GAGE12G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.49572190G>A, NW_004070880.2:g.1761619G>A, NC_000023.10:g.49336793G>A, NM_001098409.4:c.171G>A, NM_001098409.3:c.171G>A, NM_001098409.2:c.171G>A, NM_001098409.1:c.171G>A, NM_001354422.1:c.171G>A

Select item 12152411013.

rs1215241101 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:49571621 (GRCh38)
X:49336224 (GRCh37)
Canonical SPDI:: NC_000023.11:49571620:A:G
Gene:: GAGE12G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.47879/5937 (ALFA)
G=0.28841/1654 (TOMMO)
G=0.38374/373 (KOREAN)
HGVS:: NC_000023.11:g.49571621A>G, NW_004070880.2:g.1761050A>G, NC_000023.10:g.49336224A>G, NM_001098409.4:c.67A>G, NM_001098409.3:c.67A>G, NM_001098409.2:c.67A>G, NM_001098409.1:c.67A>G, NM_001354422.1:c.67A>G, NP_001091879.1:p.Met23Val, NP_001341351.1:p.Met23Val

Select item 1999352724.

rs199935272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:49572191 (GRCh38)
X:49336794 (GRCh37)
Canonical SPDI:: NC_000023.11:49572190:G:A,NC_000023.11:49572190:G:C
Gene:: GAGE12G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00009/8 (GnomAD)
A=0.00104/23 (TOMMO)
A=0.00531/14 (KOREAN)
HGVS:: NC_000023.11:g.49572191G>A, NC_000023.11:g.49572191G>C, NW_004070880.2:g.1761620G>A, NW_004070880.2:g.1761620G>C, NC_000023.10:g.49336794G>A, NC_000023.10:g.49336794G>C, NM_001098409.4:c.172G>A, NM_001098409.4:c.172G>C, NM_001098409.3:c.172G>A, NM_001098409.3:c.172G>C, NM_001098409.2:c.172G>A, NM_001098409.2:c.172G>C, NM_001098409.1:c.172G>A, NM_001098409.1:c.172G>C, NM_001354422.1:c.172G>A, NM_001354422.1:c.172G>C, NP_001091879.1:p.Glu58Lys, NP_001091879.1:p.Glu58Gln, NP_001341351.1:p.Glu58Lys, NP_001341351.1:p.Glu58Gln

dbSNP