Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129213173T>A , CM000669.2:g.129213173T>A | GRCh38 |
| NC_000007.13:g.128853014T>A , CM000669.1:g.128853014T>A | GRCh37 |
| NC_000007.12:g.128640250T>A | NCBI36 |
| NG_023340.1:g.29302T>A | |
| NG_023340.2:g.29302T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.*722T>A MANE Select | ENSP00000249373.3:n.*722T>A | |
| ENST00000655644.1:c.*2841T>A | ENSP00000499377.1:n.*2841T>A | |
| ENST00000249373.7:c.*722T>A | ENSP00000249373.3:n.*722T>A | |
| NM_005631.4:c.*722T>A | NP_005622.1:n.*722T>A | |
| XM_011516522.1:c.*722T>A | XP_011514824.1:n.*722T>A | |
| XM_024446891.1:c.*722T>A | XP_024302659.1:n.*722T>A | |
| NM_005631.5:c.*722T>A MANE Select | NP_005622.1:n.*722T>A |