Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456792T>C , CM000683.2:g.44456792T>C | GRCh38 |
| NC_000021.8:g.45876675T>C , CM000683.1:g.45876675T>C | GRCh37 |
| NC_000021.7:g.44701103T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.148T>C MANE Select | ENSP00000291592.4:p.Cys50Arg | |
| ENST00000291592.5:c.148T>C | ENSP00000291592.4:p.Cys50Arg | |
| NM_030891.4:c.148T>C | NP_112153.1:p.Cys50Arg | |
| NM_030891.5:c.148T>C | NP_112153.1:p.Cys50Arg | |
| NM_030891.6:c.148T>C MANE Select | NP_112153.1:p.Cys50Arg |