Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084764G>T , CM000685.2:g.108084764G>T | GRCh38 |
| NC_000023.10:g.107327994G>T , CM000685.1:g.107327994G>T | GRCh37 |
| NC_000023.9:g.107214650G>T | NCBI36 |
| NG_012521.1:g.11855C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*210C>A MANE Select | ENSP00000217958.3:n.*210C>A | |
| ENST00000217958.7:c.*210C>A | ENSP00000217958.3:n.*210C>A | |
| ENST00000372296.5:c.*356C>A | ENSP00000361370.1:n.*356C>A | |
| NM_002814.3:c.*210C>A | NP_002805.1:n.*210C>A | |
| NM_170750.2:c.*356C>A | NP_736606.1:n.*356C>A | |
| NM_002814.4:c.*210C>A MANE Select | NP_002805.1:n.*210C>A | |
| NM_170750.3:c.*356C>A | NP_736606.1:n.*356C>A |