Linked Data
dbSNP Id:
rs998296559
gnomAD v2:
16-84065503-C-A
gnomAD v3:
16-84031898-C-A
gnomAD v4:
16-84031898-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84031898C>A , CM000678.2:g.84031898C>A | GRCh38 |
| NC_000016.9:g.84065503C>A , CM000678.1:g.84065503C>A | GRCh37 |
| NC_000016.8:g.82623004C>A | NCBI36 |
| NG_034136.1:g.15260G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299709.8:c.601G>T MANE Select | ENSP00000299709.3:p.Gly201Cys | |
| ENST00000299709.7:c.601G>T | ENSP00000299709.3:p.Gly201Cys | |
| ENST00000568178.1:c.601G>T | ENSP00000457737.1:p.Gly201Cys | |
| NM_001080442.2:c.601G>T | NP_001073911.1:p.Gly201Cys | |
| XM_011522872.1:c.601G>T | XP_011521174.1:p.Gly201Cys | |
| XM_017022946.1:c.601G>T | XP_016878435.1:p.Gly201Cys | |
| NM_001080442.3:c.601G>T MANE Select | NP_001073911.1:p.Gly201Cys |