Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085326A>C , CM000666.2:g.186085326A>C | GRCh38 |
| NC_000004.11:g.187006480A>C , CM000666.1:g.187006480A>C | GRCh37 |
| NC_000004.10:g.187243474A>C | NCBI36 |
| NG_007278.1:g.21172A>C , LRG_117:g.21172A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*2720A>C | ENSP00000513675.1:n.*2720A>C | |
| ENST00000698353.1:n.3043A>C | ||
| ENST00000698354.1:c.*453A>C | ENSP00000513676.1:n.*453A>C | |
| ENST00000296795.8:c.*453A>C MANE Select | ENSP00000296795.3:n.*453A>C | |
| ENST00000296795.7:c.*453A>C | ENSP00000296795.2:n.*453A>C | |
| NM_003265.3:c.*453A>C MANE Select | NP_003256.1:n.*453A>C |