Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154191716T>C , CM000685.2:g.154191716T>C | GRCh38 |
| NC_000023.10:g.153457207T>C , CM000685.1:g.153457207T>C | GRCh37 |
| NG_011606.1:g.14123T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000513.2:c.607T>C MANE Select | NP_000504.1:p.Cys203Arg |
| ENST00000595290.6:c.607T>C MANE Select | ENSP00000472316.1:p.Cys203Arg |
| ENST00000595290.5:c.607T>C | ENSP00000472316.1:p.Cys203Arg |
| ENST00000595330.1:n.588+1494T>C | |
| ENST00000596998.2:c.194T>C |