Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.81751938C>A , CM000668.2:g.81751938C>A | GRCh38 |
| NC_000006.11:g.82461655C>A , CM000668.1:g.82461655C>A | GRCh37 |
| NC_000006.10:g.82518374C>A | NCBI36 |
| NG_056210.1:g.5774G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017633.3:c.204G>T MANE Select | NP_060103.2:p.Trp68Cys |
| ENST00000320172.11:c.204G>T MANE Select | ENSP00000318298.6:p.Trp68Cys |
| NM_017633.2:c.204G>T | NP_060103.2:p.Trp68Cys |
| ENST00000320172.10:c.204G>T | ENSP00000318298.6:p.Trp68Cys |
| ENST00000369754.7:c.261G>T | ENSP00000358769.3:p.Trp87Cys |
| ENST00000369756.3:c.447G>T | ENSP00000358771.3:p.Trp149Cys |