Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30249017T>A , CM000679.2:g.30249017T>A | GRCh38 |
| NC_000017.10:g.28576035T>A , CM000679.1:g.28576035T>A | GRCh37 |
| NC_000017.9:g.25600161T>A | NCBI36 |
| NG_011440.1:g.48040A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261714.11:c.1368A>T MANE Select | ENSP00000261714.6:p.Ter456Cys | |
| ENST00000261714.10:c.1368A>T | ENSP00000261714.6:p.Ter456Cys | |
| ENST00000578090.5:c.*1042A>T | ENSP00000462353.1:n.*1042A>T | |
| ENST00000578795.1:n.1267A>T | ||
| NM_000386.3:c.1368A>T | NP_000377.1:p.Ter456Cys | |
| XR_934653.1:n.701-770T>A | ||
| XR_934655.1:n.701-3057T>A | ||
| NM_000386.4:c.1368A>T MANE Select | NP_000377.1:p.Ter456Cys |