Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659283C>A , CM000685.2:g.136659283C>A | GRCh38 |
| NC_000023.10:g.135741442C>A , CM000685.1:g.135741442C>A | GRCh37 |
| NC_000023.9:g.135569108C>A | NCBI36 |
| NG_007280.1:g.16107C>A , LRG_141:g.16107C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*272C>A | ENSP00000512122.1:n.*272C>A | |
| ENST00000695725.1:c.*209C>A | ENSP00000512123.1:n.*209C>A | |
| ENST00000695726.1:n.2622C>A | ||
| ENST00000695729.1:n.3457C>A | ||
| ENST00000370629.7:c.654C>A MANE Select | ENSP00000359663.2:p.Cys218Ter | |
| ENST00000370628.2:c.591C>A | ENSP00000359662.2:p.Cys197Ter | |
| ENST00000370629.6:c.654C>A | ENSP00000359663.2:p.Cys218Ter | |
| NM_000074.2:c.654C>A , LRG_141t1:c.654C>A | NP_000065.1:p.Cys218Ter | |
| NM_000074.3:c.654C>A MANE Select | NP_000065.1:p.Cys218Ter |