Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75912804C>T , CM000663.2:g.75912804C>T | GRCh38 |
| NC_000001.10:g.76378489C>T , CM000663.1:g.76378489C>T | GRCh37 |
| NC_000001.9:g.76151077C>T | NCBI36 |
| NG_029861.1:g.120934C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002440.4:c.2728C>T MANE Select | NP_002431.2:p.Arg910Ter |
| ENST00000263187.4:c.2728C>T MANE Select | ENSP00000263187.3:p.Arg910Ter |
| NM_002440.3:c.2728C>T | NP_002431.2:p.Arg910Ter |
| ENST00000263187.3:c.2728C>T | ENSP00000263187.3:p.Arg910Ter |