Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10648053G>A , CM000682.2:g.10648053G>A | GRCh38 |
| NC_000020.10:g.10628701G>A , CM000682.1:g.10628701G>A | GRCh37 |
| NC_000020.9:g.10576701G>A | NCBI36 |
| NG_007496.1:g.30994C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1627C>T MANE Select | NP_000205.1:p.Arg543Cys |
| ENST00000254958.10:c.1627C>T MANE Select | ENSP00000254958.4:p.Arg543Cys |
| NM_000214.2:c.1627C>T | NP_000205.1:p.Arg543Cys |
| ENST00000254958.9:c.1627C>T | ENSP00000254958.4:p.Arg543Cys |
| ENST00000423891.6:n.1493C>T | |
| ENST00000617965.2:n.2216C>T | |
| ENST00000620743.1:n.684C>T | |
| ENST00000622545.1:c.358C>T |