Linked Data
dbSNP Id:
rs746152283
ExAC:
1:115576049 T / A
gnomAD v2:
1-115576049-T-A
gnomAD v4:
1-115033428-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033428T>A , CM000663.2:g.115033428T>A | GRCh38 |
| NC_000001.10:g.115576049T>A , CM000663.1:g.115576049T>A | GRCh37 |
| NC_000001.9:g.115377572T>A | NCBI36 |
| NG_015891.1:g.8635T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.66T>A MANE Select | ENSP00000256592.1:p.Cys22Ter | |
| ENST00000256592.2:c.66T>A | ENSP00000256592.1:p.Cys22Ter | |
| ENST00000369517.1:c.66T>A | ENSP00000358530.1:p.Cys22Ter | |
| NM_000549.4:c.66T>A | NP_000540.2:p.Cys22Ter | |
| XM_011542065.1:c.66T>A | XP_011540367.1:p.Cys22Ter | |
| XM_011542065.2:c.66T>A | XP_011540367.1:p.Cys22Ter | |
| NM_000549.5:c.66T>A MANE Select | NP_000540.2:p.Cys22Ter |