Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981606G>T , CM000674.2:g.48981606G>T | GRCh38 |
| NC_000012.11:g.49375389G>T , CM000674.1:g.49375389G>T | GRCh37 |
| NC_000012.10:g.47661656G>T | NCBI36 |
| NG_033141.1:g.8154G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.1079G>T MANE Select | ENSP00000293549.3:p.Cys360Phe | |
| ENST00000293549.3:c.1079G>T | ENSP00000293549.3:p.Cys360Phe | |
| ENST00000613114.4:c.1046G>T | ENSP00000481240.1:p.Cys349Phe | |
| NM_005430.3:c.1079G>T | NP_005421.1:p.Cys360Phe | |
| NM_005430.4:c.1079G>T MANE Select | NP_005421.1:p.Cys360Phe |