Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111222705C>T , CM000668.2:g.111222705C>T | GRCh38 |
| NC_000006.11:g.111543908C>T , CM000668.1:g.111543908C>T | GRCh37 |
| NC_000006.10:g.111650601C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368851.10:c.*470C>T MANE Select | ENSP00000357844.4:n.*470C>T | |
| ENST00000368850.4:c.*470C>T | ENSP00000357843.1:n.*470C>T | |
| ENST00000368851.9:c.*470C>T | ENSP00000357844.4:n.*470C>T | |
| NM_018593.4:c.*470C>T | NP_061063.2:n.*470C>T | |
| XM_005266818.2:c.*424C>T | XP_005266875.1:n.*424C>T | |
| XM_017010237.1:c.*470C>T | XP_016865726.1:n.*470C>T | |
| XR_001743158.1:n.2300C>T | ||
| NM_018593.5:c.*470C>T MANE Select | NP_061063.2:n.*470C>T |