Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811714C>T , CM000663.2:g.192811714C>T | GRCh38 |
| NC_000001.10:g.192780844C>T , CM000663.1:g.192780844C>T | GRCh37 |
| NC_000001.9:g.191047467C>T | NCBI36 |
| NG_012800.1:g.7676C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*118C>T MANE Select | ENSP00000235382.5:n.*118C>T | |
| ENST00000235382.6:c.*118C>T | ENSP00000235382.5:n.*118C>T | |
| NM_002923.3:c.*118C>T | NP_002914.1:n.*118C>T | |
| NM_002923.4:c.*118C>T MANE Select | NP_002914.1:n.*118C>T |