Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49513169G>A , CM000682.2:g.49513169G>A | GRCh38 |
| NC_000020.10:g.48129706G>A , CM000682.1:g.48129706G>A | GRCh37 |
| NC_000020.9:g.47563113G>A | NCBI36 |
| NG_007940.1:g.60002C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000961.4:c.1117C>T MANE Select | NP_000952.1:p.Arg373Ter |
| ENST00000244043.5:c.1117C>T MANE Select | ENSP00000244043.3:p.Arg373Ter |
| NM_000961.3:c.1117C>T | NP_000952.1:p.Arg373Ter |
| ENST00000244043.4:c.1117C>T | ENSP00000244043.3:p.Arg373Ter |
| ENST00000478971.1:n.938C>T |