Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31335984A>G , CM000664.2:g.31335984A>G | GRCh38 |
| NC_000002.11:g.31558850A>G , CM000664.1:g.31558850A>G | GRCh37 |
| NC_000002.10:g.31412354A>G | NCBI36 |
| NG_008871.1:g.83762T>C | |
| NG_008871.2:g.83762T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379416.4:c.3976T>C MANE Select | ENSP00000368727.3:p.Cys1326Arg | |
| ENST00000379416.3:c.3976T>C | ENSP00000368727.3:p.Cys1326Arg | |
| NM_000379.3:c.3976T>C | NP_000370.2:p.Cys1326Arg | |
| XM_011533095.1:c.3973T>C | XP_011531397.1:p.Cys1325Arg | |
| XM_011533095.2:c.3973T>C | XP_011531397.1:p.Cys1325Arg | |
| NM_000379.4:c.3976T>C MANE Select | NP_000370.2:p.Cys1326Arg |