Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612803A>C , CM000668.2:g.1612803A>C | GRCh38 |
| NC_000006.11:g.1613038A>C , CM000668.1:g.1613038A>C | GRCh37 |
| NC_000006.10:g.1558037A>C | NCBI36 |
| NG_009368.1:g.7358A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*696A>C MANE Select | ENSP00000493906.1:n.*696A>C | |
| ENST00000380874.3:c.*696A>C | ENSP00000370256.2:n.*696A>C | |
| NM_001453.2:c.2358A>C | NP_001444.2:n.2358A>C | |
| NM_001453.3:c.*696A>C MANE Select | NP_001444.2:n.*696A>C |