Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084806A>G , CM000685.2:g.108084806A>G | GRCh38 |
| NC_000023.10:g.107328036A>G , CM000685.1:g.107328036A>G | GRCh37 |
| NC_000023.9:g.107214692A>G | NCBI36 |
| NG_012521.1:g.11813T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*168T>C MANE Select | ENSP00000217958.3:n.*168T>C | |
| ENST00000217958.7:c.*168T>C | ENSP00000217958.3:n.*168T>C | |
| ENST00000372295.5:c.*168T>C | ENSP00000361369.1:n.*168T>C | |
| ENST00000372296.5:c.*314T>C | ENSP00000361370.1:n.*314T>C | |
| NM_002814.3:c.*168T>C | NP_002805.1:n.*168T>C | |
| NM_170750.2:c.*314T>C | NP_736606.1:n.*314T>C | |
| NM_002814.4:c.*168T>C MANE Select | NP_002805.1:n.*168T>C | |
| NM_170750.3:c.*314T>C | NP_736606.1:n.*314T>C |