Linked Data
dbSNP Id:
rs1303665750
gnomAD v2:
10-131565204-G-A
gnomAD v3:
10-129766940-G-A
gnomAD v4:
10-129766940-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129766940G>A , CM000672.2:g.129766940G>A | GRCh38 |
| NC_000010.10:g.131565204G>A , CM000672.1:g.131565204G>A | GRCh37 |
| NC_000010.9:g.131455194G>A | NCBI36 |
| NG_052673.1:g.304757G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.660G>A | ENSP00000302111.7:p.Gly220= | |
| ENST00000651593.1:c.567G>A MANE Select | ENSP00000498729.1:p.Gly189= | |
| ENST00000306010.7:c.660G>A | ENSP00000302111.7:p.Gly220= | |
| NM_002412.3:c.660G>A | NP_002403.2:p.Gly220= | |
| NM_002412.4:c.660G>A | NP_002403.2:p.Gly220= | |
| XM_005252682.2:c.567G>A | XP_005252739.1:p.Gly189= | |
| XM_006717863.2:c.390G>A | XP_006717926.1:p.Gly130= | |
| XM_011539817.1:c.576G>A | XP_011538119.1:p.Gly192= | |
| NM_002412.5:c.567G>A MANE Select | NP_002403.3:p.Gly189= | |
| XM_017016275.1:c.390G>A | XP_016871764.1:p.Gly130= |