Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811795T>C , CM000663.2:g.192811795T>C | GRCh38 |
| NC_000001.10:g.192780925T>C , CM000663.1:g.192780925T>C | GRCh37 |
| NC_000001.9:g.191047548T>C | NCBI36 |
| NG_012800.1:g.7757T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*199T>C MANE Select | ENSP00000235382.5:n.*199T>C | |
| ENST00000235382.6:c.*199T>C | ENSP00000235382.5:n.*199T>C | |
| NM_002923.3:c.*199T>C | NP_002914.1:n.*199T>C | |
| NM_002923.4:c.*199T>C MANE Select | NP_002914.1:n.*199T>C |