Linked Data
ClinVar Variation Id:
196169
dbSNP Id:
rs141556170
ExAC:
1:40768830 C / T
gnomAD v2:
1-40768830-C-T
gnomAD v3:
1-40303158-C-T
gnomAD v4:
1-40303158-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40303158C>T , CM000663.2:g.40303158C>T | GRCh38 |
| NC_000001.10:g.40768830C>T , CM000663.1:g.40768830C>T | GRCh37 |
| NC_000001.9:g.40541417C>T | NCBI36 |
| NG_008031.1:g.19110G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372748.8:c.1576G>A MANE Select | ENSP00000361834.3:p.Val526Met | |
| ENST00000372748.7:c.1576G>A | ENSP00000361834.3:p.Val526Met | |
| ENST00000427563.1:c.360-349G>A | ENSP00000407377.1:n.360-349G>A | |
| ENST00000466267.1:n.541G>A | ||
| ENST00000482722.5:n.1879G>A | ||
| NM_001852.3:c.1576G>A | NP_001843.1:p.Val526Met | |
| XM_006710365.2:c.1576G>A | XP_006710428.1:p.Val526Met | |
| XM_011540714.1:c.1588G>A | XP_011539016.1:p.Val530Met | |
| XM_011540715.1:c.1306G>A | XP_011539017.1:p.Val436Met | |
| XM_011540716.1:c.1306G>A | XP_011539018.1:p.Val436Met | |
| XM_011540717.1:c.1033G>A | XP_011539019.1:p.Val345Met | |
| XM_006710365.3:c.1576G>A | XP_006710428.1:p.Val526Met | |
| XM_011540715.2:c.1306G>A | XP_011539017.1:p.Val436Met | |
| XM_011540716.2:c.1306G>A | XP_011539018.1:p.Val436Met | |
| XM_011540717.2:c.1033G>A | XP_011539019.1:p.Val345Met | |
| XM_017000332.1:c.1588G>A | XP_016855821.1:p.Val530Met | |
| XM_017000333.1:c.1294G>A | XP_016855822.1:p.Val432Met | |
| NM_001852.4:c.1576G>A MANE Select | NP_001843.1:p.Val526Met |