Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29383831G>A , CM000664.2:g.29383831G>A | GRCh38 |
| NC_000002.11:g.29606697G>A , CM000664.1:g.29606697G>A | GRCh37 |
| NC_000002.10:g.29460201G>A | NCBI36 |
| NG_009445.1:g.542736C>T , LRG_488:g.542736C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1183C>T MANE Select | NP_004295.2:p.Arg395Cys |
| ENST00000389048.8:c.1183C>T MANE Select | ENSP00000373700.3:p.Arg395Cys |
| NM_004304.4:c.1183C>T | NP_004295.2:p.Arg395Cys |
| ENST00000389048.7:c.1183C>T | ENSP00000373700.3:p.Arg395Cys |
| ENST00000618119.4:c.52C>T | ENSP00000482733.1:p.Arg18Cys |
| XR_001738688.2:n.2113C>T |