Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50916089T>C , CM000685.2:g.50916089T>C | GRCh38 |
| NC_000023.10:g.50659089T>C , CM000685.1:g.50659089T>C | GRCh37 |
| NC_000023.9:g.50675829T>C | NCBI36 |
| NG_012894.1:g.10306T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005448.2:c.661T>C MANE Select | NP_005439.2:p.Trp221Arg |
| ENST00000252677.4:c.661T>C MANE Select | ENSP00000252677.3:p.Trp221Arg |
| ENST00000252677.3:c.661T>C | ENSP00000252677.3:p.Trp221Arg |