Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232449C>T , CM000667.2:g.173232449C>T | GRCh38 |
| NC_000005.9:g.172659452C>T , CM000667.1:g.172659452C>T | GRCh37 |
| NC_000005.8:g.172592058C>T | NCBI36 |
| NG_013340.1:g.7864G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.*120G>A MANE Select | ENSP00000327758.4:n.*120G>A | |
| ENST00000329198.4:c.*120G>A | ENSP00000327758.4:n.*120G>A | |
| NM_001166175.1:c.*1048G>A | NP_001159647.1:n.*1048G>A | |
| NM_001166176.1:c.*894G>A | NP_001159648.1:n.*894G>A | |
| NM_004387.3:c.*120G>A | NP_004378.1:n.*120G>A | |
| NM_004387.4:c.*120G>A MANE Select | NP_004378.1:n.*120G>A | |
| NM_001166175.2:c.*1048G>A | NP_001159647.1:n.*1048G>A | |
| NM_001166176.2:c.*894G>A | NP_001159648.1:n.*894G>A |