Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339740T= , CM000669.2:g.17339740T= | GRCh38 |
| NC_000007.13:g.17379364T= , CM000669.1:g.17379364T= | GRCh37 |
| NC_000007.12:g.17345889T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1915T= MANE Select | ENSP00000242057.4:p.Cys639= | |
| ENST00000637807.1:c.1885T= | ENSP00000490530.1:p.Cys629= | |
| ENST00000642825.1:c.1870T= | ENSP00000495987.1:p.Cys624= | |
| ENST00000242057.8:c.1915T= | ENSP00000242057.4:p.Cys639= | |
| ENST00000463496.1:c.1915T= | ENSP00000436466.1:p.Cys639= | |
| NM_001621.4:c.1915T= | NP_001612.1:p.Cys639= | |
| NM_001621.5:c.1915T= MANE Select | NP_001612.1:p.Cys639= |