Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085993A>G , CM000666.2:g.186085993A>G | GRCh38 |
| NC_000004.11:g.187007147A>G , CM000666.1:g.187007147A>G | GRCh37 |
| NC_000004.10:g.187244141A>G | NCBI36 |
| NG_007278.1:g.21839A>G , LRG_117:g.21839A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*3387A>G | ENSP00000513675.1:n.*3387A>G | |
| ENST00000698353.1:n.3710A>G | ||
| ENST00000698354.1:c.*1120A>G | ENSP00000513676.1:n.*1120A>G | |
| ENST00000296795.8:c.*1120A>G MANE Select | ENSP00000296795.3:n.*1120A>G | |
| ENST00000296795.7:c.*1120A>G | ENSP00000296795.2:n.*1120A>G | |
| NM_003265.3:c.*1120A>G MANE Select | NP_003256.1:n.*1120A>G |