Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129213120C>T , CM000669.2:g.129213120C>T | GRCh38 |
| NC_000007.13:g.128852961C>T , CM000669.1:g.128852961C>T | GRCh37 |
| NC_000007.12:g.128640197C>T | NCBI36 |
| NG_023340.1:g.29249C>T | |
| NG_023340.2:g.29249C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.*669C>T MANE Select | ENSP00000249373.3:n.*669C>T | |
| ENST00000655644.1:c.*2788C>T | ENSP00000499377.1:n.*2788C>T | |
| ENST00000249373.7:c.*669C>T | ENSP00000249373.3:n.*669C>T | |
| NM_005631.4:c.*669C>T | NP_005622.1:n.*669C>T | |
| XM_011516522.1:c.*669C>T | XP_011514824.1:n.*669C>T | |
| XM_024446891.1:c.*669C>T | XP_024302659.1:n.*669C>T | |
| NM_005631.5:c.*669C>T MANE Select | NP_005622.1:n.*669C>T |