Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73640811C>T , CM000664.2:g.73640811C>T | GRCh38 |
| NC_000002.11:g.73867938C>T , CM000664.1:g.73867938C>T | GRCh37 |
| NC_000002.10:g.73721446C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.*134G>A MANE Select | ENSP00000272425.3:n.*134G>A | |
| NM_003960.3:c.*134G>A | NP_003951.3:n.*134G>A | |
| NM_003960.4:c.*134G>A MANE Select | NP_003951.3:n.*134G>A |