Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148826781C>T , CM000667.2:g.148826781C>T | GRCh38 |
| NC_000005.9:g.148206344C>T , CM000667.1:g.148206344C>T | GRCh37 |
| NC_000005.8:g.148186537C>T | NCBI36 |
| NG_016421.1:g.5189C>T | |
| NG_016421.2:g.5189C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.-51C>T MANE Select | ENSP00000305372.4:n.-51C>T | |
| ENST00000305988.5:c.-51C>T | ENSP00000305372.4:n.-51C>T | |
| NM_000024.5:c.-51C>T | NP_000015.1:n.-51C>T | |
| NM_000024.6:c.-51C>T MANE Select | NP_000015.2:n.-51C>T |