Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1814399C>T , CM000667.2:g.1814399C>T | GRCh38 |
| NC_000005.9:g.1814513C>T , CM000667.1:g.1814513C>T | GRCh37 |
| NC_000005.8:g.1867513C>T | NCBI36 |
| NG_013354.1:g.18018C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274137.10:c.247C>T MANE Select | ENSP00000274137.6:p.Arg83Trp | |
| ENST00000274137.9:c.247C>T | ENSP00000274137.5:p.Arg83Trp | |
| ENST00000469176.1:c.247C>T | ENSP00000422557.1:p.Arg83Trp | |
| NM_004553.4:c.247C>T | NP_004544.1:p.Arg83Trp | |
| NM_004553.6:c.247C>T MANE Select | NP_004544.1:p.Arg83Trp |