Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.119423572C>T , CM000670.2:g.119423572C>T | GRCh38 |
| NC_000008.10:g.120435812C>T , CM000670.1:g.120435812C>T | GRCh37 |
| NC_000008.9:g.120504993C>T | NCBI36 |
| NG_009779.1:g.12261C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002514.4:c.*440C>T MANE Select | NP_002505.1:n.*440C>T |
| ENST00000259526.4:c.*440C>T MANE Select | ENSP00000259526.3:n.*440C>T |
| NM_002514.3:c.*440C>T | NP_002505.1:n.*440C>T |
| ENST00000259526.3:c.*440C>T | ENSP00000259526.3:n.*440C>T |