Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981780C>T , CM000674.2:g.48981780C>T | GRCh38 |
| NC_000012.11:g.49375563C>T , CM000674.1:g.49375563C>T | GRCh37 |
| NC_000012.10:g.47661830C>T | NCBI36 |
| NG_033141.1:g.8328C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.*140C>T MANE Select | ENSP00000293549.3:n.*140C>T | |
| NM_005430.3:c.*140C>T | NP_005421.1:n.*140C>T | |
| NM_005430.4:c.*140C>T MANE Select | NP_005421.1:n.*140C>T |