Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33006624G>T , CM000668.2:g.33006624G>T | GRCh38 |
| NC_000006.11:g.32974401G>T , CM000668.1:g.32974401G>T | GRCh37 |
| NC_000006.10:g.33082379G>T | NCBI36 |
| NG_012007.1:g.7989C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002119.4:c.*214C>A MANE Select | NP_002110.1:n.*214C>A |
| ENST00000229829.7:c.*214C>A MANE Select | ENSP00000229829.3:n.*214C>A |
| NM_002119.3:c.*214C>A | NP_002110.1:n.*214C>A |
| ENST00000229829.6:c.*214C>A | ENSP00000229829.3:n.*214C>A |
| ENST00000490305.5:n.385C>A | |
| XM_005249047.3:c.*126C>A | XP_005249104.1:n.*126C>A |
| XM_006715076.2:c.*214C>A | XP_006715139.1:n.*214C>A |