Linked Data
ClinVar Variation Id:
1353755
ClinVar RCV Id:
RCV001863584
dbSNP Id:
rs1010315856
gnomAD v2:
1-111663260-C-T
gnomAD v3:
1-111120638-C-T
gnomAD v4:
1-111120638-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111120638C>T , CM000663.2:g.111120638C>T | GRCh38 |
| NC_000001.10:g.111663260C>T , CM000663.1:g.111663260C>T | GRCh37 |
| NC_000001.9:g.111464783C>T | NCBI36 |
| NG_053089.1:g.24579G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484310.6:c.395G>A MANE Select | ENSP00000503400.1:p.Gly132Asp | |
| ENST00000539140.6:c.395G>A | ENSP00000437718.1:p.Gly132Asp | |
| ENST00000286692.8:c.395G>A | ENSP00000286692.4:p.Gly132Asp | |
| ENST00000461449.5:n.169G>A | ||
| ENST00000462092.5:n.716G>A | ||
| ENST00000480600.6:n.411G>A | ||
| ENST00000484310.5:n.639G>A | ||
| ENST00000496430.6:c.*82G>A | ENSP00000473779.1:n.*82G>A | |
| ENST00000539140.5:c.395G>A | ENSP00000437718.1:p.Gly132Asp | |
| NM_178454.4:c.395G>A | NP_848549.3:p.Gly132Asp | |
| XM_005270469.1:c.395G>A | XP_005270526.1:p.Gly132Asp | |
| XM_005270470.1:c.395G>A | XP_005270527.1:p.Gly132Asp | |
| XM_006710361.1:c.125G>A | XP_006710424.1:p.Gly42Asp | |
| XM_006710362.1:c.125G>A | XP_006710425.1:p.Gly42Asp | |
| XM_011540707.1:c.395G>A | XP_011539009.1:p.Gly132Asp | |
| XM_011540708.1:c.395G>A | XP_011539010.1:p.Gly132Asp | |
| NM_001349881.1:c.395G>A | NP_001336810.1:p.Gly132Asp | |
| NM_001349882.1:c.395G>A | NP_001336811.1:p.Gly132Asp | |
| NM_001349884.1:c.395G>A | NP_001336813.1:p.Gly132Asp | |
| NM_001349885.1:c.395G>A | NP_001336814.1:p.Gly132Asp | |
| NM_001349886.1:c.125G>A | NP_001336815.1:p.Gly42Asp | |
| NM_001349887.1:c.125G>A | NP_001336816.1:p.Gly42Asp | |
| NM_001349888.1:c.125G>A | NP_001336817.1:p.Gly42Asp | |
| NM_001349889.1:c.5G>A | NP_001336818.1:p.Gly2Asp | |
| NM_001349890.1:c.5G>A | NP_001336819.1:p.Gly2Asp | |
| NM_001349891.1:c.5G>A | NP_001336820.1:p.Gly2Asp | |
| NM_001349892.1:c.5G>A | NP_001336821.1:p.Gly2Asp | |
| NM_001349893.1:c.5G>A | NP_001336822.1:p.Gly2Asp | |
| NM_178454.5:c.395G>A | NP_848549.3:p.Gly132Asp | |
| NR_146301.1:n.652G>A | ||
| NR_146302.1:n.512G>A | ||
| NR_146303.1:n.863G>A | ||
| NR_146304.1:n.723G>A | ||
| NR_146305.1:n.706G>A | ||
| NR_146306.1:n.678G>A | ||
| NR_146307.1:n.751G>A | ||
| NR_146308.1:n.818G>A | ||
| NM_001349881.2:c.395G>A | NP_001336810.1:p.Gly132Asp | |
| NM_001349882.2:c.395G>A | NP_001336811.1:p.Gly132Asp | |
| NM_001349884.2:c.395G>A MANE Select | NP_001336813.1:p.Gly132Asp | |
| NM_001349885.2:c.395G>A | NP_001336814.1:p.Gly132Asp | |
| NM_001349886.2:c.125G>A | NP_001336815.1:p.Gly42Asp | |
| NM_001349887.2:c.125G>A | NP_001336816.1:p.Gly42Asp | |
| NM_001349888.2:c.125G>A | NP_001336817.1:p.Gly42Asp | |
| NM_001349889.2:c.5G>A | NP_001336818.1:p.Gly2Asp | |
| NM_001349890.2:c.5G>A | NP_001336819.1:p.Gly2Asp | |
| NM_001349891.2:c.5G>A | NP_001336820.1:p.Gly2Asp | |
| NM_001349892.2:c.5G>A | NP_001336821.1:p.Gly2Asp | |
| NM_001349893.2:c.5G>A | NP_001336822.1:p.Gly2Asp | |
| NM_178454.6:c.395G>A | NP_848549.3:p.Gly132Asp | |
| NR_146301.2:n.529G>A | ||
| NR_146302.2:n.389G>A | ||
| NR_146303.2:n.740G>A | ||
| NR_146304.2:n.600G>A | ||
| NR_146305.2:n.583G>A | ||
| NR_146306.2:n.555G>A | ||
| NR_146307.2:n.628G>A | ||
| NR_146308.2:n.695G>A |