Linked Data
gnomAD v4:
18-50251643-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.50251643C>A , CM000680.2:g.50251643C>A | GRCh38 |
| NC_000018.9:g.47778013C>A , CM000680.1:g.47778013C>A | GRCh37 |
| NC_000018.8:g.46032011C>A | NCBI36 |
| NG_042815.1:g.19880G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398545.5:c.615G>T MANE Select | ENSP00000381553.3:p.Trp205Cys | |
| ENST00000398545.4:c.615G>T | ENSP00000381553.3:p.Trp205Cys | |
| NM_145020.3:c.615G>T | NP_659457.2:p.Trp205Cys | |
| NM_145020.4:c.615G>T | NP_659457.2:p.Trp205Cys | |
| XM_024451100.1:c.18G>T | XP_024306868.1:p.Trp6Cys | |
| NM_145020.5:c.615G>T MANE Select | NP_659457.2:p.Trp205Cys |