Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73640831G>A , CM000664.2:g.73640831G>A | GRCh38 |
| NC_000002.11:g.73867958G>A , CM000664.1:g.73867958G>A | GRCh37 |
| NC_000002.10:g.73721466G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.*114C>T MANE Select | ENSP00000272425.3:n.*114C>T | |
| NM_003960.3:c.*114C>T | NP_003951.3:n.*114C>T | |
| NM_003960.4:c.*114C>T MANE Select | NP_003951.3:n.*114C>T |