Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084522A>C , CM000685.2:g.108084522A>C | GRCh38 |
| NC_000023.10:g.107327752A>C , CM000685.1:g.107327752A>C | GRCh37 |
| NC_000023.9:g.107214408A>C | NCBI36 |
| NG_012521.1:g.12097T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*452T>G MANE Select | ENSP00000217958.3:n.*452T>G | |
| ENST00000217958.7:c.*452T>G | ENSP00000217958.3:n.*452T>G | |
| NM_002814.3:c.*452T>G | NP_002805.1:n.*452T>G | |
| NM_170750.2:c.*598T>G | NP_736606.1:n.*598T>G | |
| NM_002814.4:c.*452T>G MANE Select | NP_002805.1:n.*452T>G | |
| NM_170750.3:c.*598T>G | NP_736606.1:n.*598T>G |