Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111222844T>C , CM000668.2:g.111222844T>C | GRCh38 |
| NC_000006.11:g.111544047T>C , CM000668.1:g.111544047T>C | GRCh37 |
| NC_000006.10:g.111650740T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368851.10:c.*609T>C MANE Select | ENSP00000357844.4:n.*609T>C | |
| ENST00000368850.4:c.*609T>C | ENSP00000357843.1:n.*609T>C | |
| ENST00000368851.9:c.*609T>C | ENSP00000357844.4:n.*609T>C | |
| NM_018593.4:c.*609T>C | NP_061063.2:n.*609T>C | |
| XM_005266818.2:c.*563T>C | XP_005266875.1:n.*563T>C | |
| XM_017010237.1:c.*609T>C | XP_016865726.1:n.*609T>C | |
| XR_001743158.1:n.2439T>C | ||
| NM_018593.5:c.*609T>C MANE Select | NP_061063.2:n.*609T>C |