Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461829G>C , CM000672.2:g.122461829G>C | GRCh38 |
| NC_000010.10:g.124221345G>C , CM000672.1:g.124221345G>C | GRCh37 |
| NC_000010.9:g.124211335G>C | NCBI36 |
| NG_011554.1:g.5305G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.177G>C MANE Select | ENSP00000357980.3:p.Arg59= | |
| ENST00000648167.1:c.154+3120G>C | ENSP00000498033.1:n.154+3120G>C | |
| ENST00000368984.7:c.177G>C | ENSP00000357980.3:p.Arg59= | |
| NM_002775.4:c.177G>C | NP_002766.1:p.Arg59= | |
| NM_002775.5:c.177G>C MANE Select | NP_002766.1:p.Arg59= |