Linked Data
dbSNP Id:
rs1046310125
gnomAD v2:
15-40697961-G-A
gnomAD v3:
15-40405760-G-A
gnomAD v4:
15-40405760-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40405760G>A , CM000677.2:g.40405760G>A | GRCh38 |
| NC_000015.9:g.40697961G>A , CM000677.1:g.40697961G>A | GRCh37 |
| NC_000015.8:g.38485253G>A | NCBI36 |
| NG_011986.1:g.5276G>A | |
| NG_011986.2:g.5276G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650656.1:c.-59G>A | ENSP00000498731.1:n.-59G>A | |
| ENST00000651168.1:c.-59G>A | ENSP00000499074.1:n.-59G>A | |
| NM_001159508.1:c.-59G>A | NP_001152980.1:n.-59G>A | |
| NM_002225.3:c.-59G>A | NP_002216.2:n.-59G>A | |
| XR_429453.2:n.43G>A |