Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133366078A>G , CM000672.2:g.133366078A>G | GRCh38 |
| NC_000010.10:g.135179582A>G , CM000672.1:g.135179582A>G | GRCh37 |
| NC_000010.9:g.135029572A>G | NCBI36 |
| NG_042077.1:g.12327T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.637T>C MANE Select | ENSP00000357535.3:p.Cys213Arg | |
| ENST00000368547.3:c.637T>C | ENSP00000357535.3:p.Cys213Arg | |
| NM_004092.3:c.637T>C | NP_004083.3:p.Cys213Arg | |
| XR_002956965.1:n.1493T>C | ||
| NM_004092.4:c.637T>C MANE Select | NP_004083.3:p.Cys213Arg |