Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89179492T>A , CM000678.2:g.89179492T>A | GRCh38 |
| NC_000016.9:g.89245900T>A , CM000678.1:g.89245900T>A | GRCh37 |
| NC_000016.8:g.87773401T>A | NCBI36 |
| NG_012055.1:g.12738T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.119T>A MANE Select | ENSP00000289746.2:p.Leu40Gln | |
| ENST00000289746.2:c.119T>A | ENSP00000289746.2:p.Leu40Gln | |
| ENST00000521087.5:n.184T>A | ||
| ENST00000524089.1:n.184T>A | ||
| NM_004933.2:c.119T>A | NP_004924.1:p.Leu40Gln | |
| XM_011522806.1:c.119T>A | XP_011521108.1:p.Leu40Gln | |
| NM_004933.3:c.119T>A MANE Select | NP_004924.1:p.Leu40Gln |