Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71817915A>G , CM000677.2:g.71817915A>G | GRCh38 |
| NC_000015.9:g.72110256A>G , CM000677.1:g.72110256A>G | GRCh37 |
| NC_000015.8:g.69897310A>G | NCBI36 |
| NG_009113.2:g.12361A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014249.4:c.*231A>G MANE Select | NP_055064.1:n.*231A>G |
| ENST00000617575.5:c.*231A>G MANE Select | ENSP00000482504.1:n.*231A>G |
| NM_014249.3:c.*231A>G | NP_055064.1:n.*231A>G |
| ENST00000563709.1:n.356+100A>G | |
| ENST00000617575.4:c.*231A>G | ENSP00000482504.1:n.*231A>G |
| ENST00000621736.4:c.*231A>G | ENSP00000479254.1:n.*231A>G |
| XM_011521146.1:c.*231A>G | XP_011519448.1:n.*231A>G |