Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232696G>T , CM000667.2:g.173232696G>T | GRCh38 |
| NC_000005.9:g.172659699G>T , CM000667.1:g.172659699G>T | GRCh37 |
| NC_000005.8:g.172592305G>T | NCBI36 |
| NG_013340.1:g.7617C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.848C>A MANE Select | ENSP00000327758.4:p.Pro283Gln | |
| ENST00000329198.4:c.848C>A | ENSP00000327758.4:p.Pro283Gln | |
| NM_001166175.1:c.*801C>A | NP_001159647.1:n.*801C>A | |
| NM_001166176.1:c.*647C>A | NP_001159648.1:n.*647C>A | |
| NM_004387.3:c.848C>A | NP_004378.1:p.Pro283Gln | |
| NM_004387.4:c.848C>A MANE Select | NP_004378.1:p.Pro283Gln | |
| NM_001166175.2:c.*801C>A | NP_001159647.1:n.*801C>A | |
| NM_001166176.2:c.*647C>A | NP_001159648.1:n.*647C>A |