Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10652559G>T , CM000682.2:g.10652559G>T | GRCh38 |
| NC_000020.10:g.10633207G>T , CM000682.1:g.10633207G>T | GRCh37 |
| NC_000020.9:g.10581207G>T | NCBI36 |
| NG_007496.1:g.26488C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.795C>A MANE Select | NP_000205.1:p.Cys265Ter |
| ENST00000254958.10:c.795C>A MANE Select | ENSP00000254958.4:p.Cys265Ter |
| NM_000214.2:c.795C>A | NP_000205.1:p.Cys265Ter |
| ENST00000254958.9:c.795C>A | ENSP00000254958.4:p.Cys265Ter |
| ENST00000423891.6:n.661C>A | |
| ENST00000617965.1:n.164C>A | |
| ENST00000617965.2:n.164C>A |