Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085893C>T , CM000666.2:g.186085893C>T | GRCh38 |
| NC_000004.11:g.187007047C>T , CM000666.1:g.187007047C>T | GRCh37 |
| NC_000004.10:g.187244041C>T | NCBI36 |
| NG_007278.1:g.21739C>T , LRG_117:g.21739C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*3287C>T | ENSP00000513675.1:n.*3287C>T | |
| ENST00000698353.1:n.3610C>T | ||
| ENST00000698354.1:c.*1020C>T | ENSP00000513676.1:n.*1020C>T | |
| ENST00000296795.8:c.*1020C>T MANE Select | ENSP00000296795.3:n.*1020C>T | |
| ENST00000296795.7:c.*1020C>T | ENSP00000296795.2:n.*1020C>T | |
| NM_003265.3:c.*1020C>T MANE Select | NP_003256.1:n.*1020C>T |