Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24495273T>C , CM000668.2:g.24495273T>C | GRCh38 |
| NC_000006.11:g.24495501T>C , CM000668.1:g.24495501T>C | GRCh37 |
| NC_000006.10:g.24603480T>C | NCBI36 |
| NG_008161.1:g.5305T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080.3:c.277T>C MANE Select | NP_001071.1:p.Cys93Arg |
| ENST00000357578.8:c.277T>C MANE Select | ENSP00000350191.3:p.Cys93Arg |
| NM_001368954.1:c.277T>C | NP_001355883.1:p.Cys93Arg |
| NM_170740.1:c.277T>C | NP_733936.1:p.Cys93Arg |
| ENST00000348925.2:c.277T>C | ENSP00000314649.3:p.Cys93Arg |
| ENST00000357578.7:c.277T>C | ENSP00000350191.3:p.Cys93Arg |
| ENST00000491546.5:c.277T>C | ENSP00000417687.1:p.Cys93Arg |
| ENST00000672352.1:c.40T>C | ENSP00000500876.1:p.Cys14Arg |
| ENST00000672557.1:c.38T>C | |
| ENST00000672652.1:c.198T>C |