Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144398305A>C , CM000669.2:g.144398305A>C | GRCh38 |
| NC_000007.13:g.144095398A>C , CM000669.1:g.144095398A>C | GRCh37 |
| NC_000007.12:g.143726331A>C | NCBI36 |
| NG_028979.1:g.16923T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643164.1:c.848T>G | ENSP00000495343.1:p.Met283Arg | |
| ENST00000645489.1:c.1400T>G | ENSP00000496732.1:p.Met467Arg | |
| ENST00000467773.1:c.1751T>G MANE Select | ENSP00000419457.1:p.Met584Arg | |
| ENST00000483238.5:c.1655T>G | ENSP00000419565.1:p.Met552Arg | |
| NM_001080413.3:c.1751T>G MANE Select | NP_001073882.3:p.Met584Arg | |
| XM_011515791.1:c.1400T>G | XP_011514093.1:p.Met467Arg | |
| XM_017011742.2:c.1655T>G | XP_016867231.1:p.Met552Arg |