Linked Data
dbSNP Id:
rs2779251
ExAC:
17:26131326 G / A
gnomAD v2:
17-26131326-G-A
gnomAD v3:
17-27804300-G-A
gnomAD v4:
17-27804300-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27804300G>A , CM000679.2:g.27804300G>A | GRCh38 |
| NC_000017.10:g.26131326G>A , CM000679.1:g.26131326G>A | GRCh37 |
| NC_000017.9:g.23155453G>A | NCBI36 |
| NG_011470.1:g.1230C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000582441.1:c.261C>T | ENSP00000462879.1:p.Cys87= | |
| XM_011524859.1:c.-251C>T | XP_011523161.1:n.-251C>T |