Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20759983T>A , CM000686.2:g.20759983T>A | GRCh38 |
| NC_000024.9:g.22921869T>A , CM000686.1:g.22921869T>A | GRCh37 |
| NC_000024.8:g.21331257T>A | NCBI36 |
| NG_032924.1:g.8916T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629237.2:c.197T>A MANE Select | ENSP00000486252.1:p.Met66Lys | |
| ENST00000629237.1:c.197T>A | ENSP00000486252.1:p.Met66Lys | |
| NM_001039567.2:c.197T>A | NP_001034656.1:p.Met66Lys | |
| XM_011531423.1:c.146T>A | XP_011529725.1:p.Met49Lys | |
| NM_001039567.3:c.197T>A MANE Select | NP_001034656.1:p.Met66Lys |