Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717799T>C , CM000674.2:g.12717799T>C | GRCh38 |
| NC_000012.11:g.12870733T>C , CM000674.1:g.12870733T>C | GRCh37 |
| NC_000012.10:g.12762000T>C | NCBI36 |
| NG_016341.1:g.5432T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.-41T>C | ENSP00000507272.1:n.-41T>C | |
| ENST00000682620.1:n.1631-1026T>C | ||
| ENST00000684771.1:n.585-1026T>C | ||
| ENST00000228872.9:c.-41T>C MANE Select | ENSP00000228872.4:n.-41T>C | |
| ENST00000228872.8:c.-41T>C | ENSP00000228872.4:n.-41T>C | |
| ENST00000477087.1:n.155-1026T>C | ||
| NM_004064.4:c.-41T>C | NP_004055.1:n.-41T>C | |
| NM_004064.5:c.-41T>C MANE Select | NP_004055.1:n.-41T>C |