Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73640819T>G , CM000664.2:g.73640819T>G | GRCh38 |
| NC_000002.11:g.73867946T>G , CM000664.1:g.73867946T>G | GRCh37 |
| NC_000002.10:g.73721454T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.*126A>C MANE Select | ENSP00000272425.3:n.*126A>C | |
| NM_003960.3:c.*126A>C | NP_003951.3:n.*126A>C | |
| NM_003960.4:c.*126A>C MANE Select | NP_003951.3:n.*126A>C |