Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455320A>C , CM000679.2:g.7455320A>C | GRCh38 |
| NC_000017.10:g.7358639A>C , CM000679.1:g.7358639A>C | GRCh37 |
| NC_000017.9:g.7299363A>C | NCBI36 |
| NG_008026.1:g.15234A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1081A>C MANE Select | ENSP00000304290.2:p.Lys361Gln | |
| ENST00000306071.6:c.1081A>C | ENSP00000304290.2:p.Lys361Gln | |
| ENST00000536404.6:c.865A>C | ENSP00000439209.2:p.Lys289Gln | |
| ENST00000570557.5:c.744A>C | ||
| ENST00000573209.1:n.2025A>C | ||
| ENST00000576360.1:c.718A>C | ENSP00000459092.1:p.Lys240Gln | |
| NM_000747.2:c.1081A>C | NP_000738.2:p.Lys361Gln | |
| NM_000747.3:c.1081A>C MANE Select | NP_000738.2:p.Lys361Gln |