Linked Data
dbSNP Id:
rs748042061
gnomAD v2:
17-56358319-G-A
gnomAD v3:
17-58280958-G-A
gnomAD v4:
17-58280958-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58280958G>A , CM000679.2:g.58280958G>A | GRCh38 |
| NC_000017.10:g.56358319G>A , CM000679.1:g.56358319G>A | GRCh37 |
| NC_000017.9:g.53713318G>A | NCBI36 |
| NG_009629.1:g.4978C>T , LRG_84:g.4978C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011524821.1:c.182C>T | XP_011523123.1:p.Ala61Val | |
| XM_011524823.1:c.182C>T | XP_011523125.1:p.Ala61Val |