Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739630T>C , CM000674.2:g.120739630T>C | GRCh38 |
| NC_000012.11:g.121177433T>C , CM000674.1:g.121177433T>C | GRCh37 |
| NC_000012.10:g.119661816T>C | NCBI36 |
| NG_007991.1:g.18863T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.*182T>C MANE Select | ENSP00000242592.4:n.*182T>C | |
| ENST00000242592.8:c.*182T>C | ENSP00000242592.4:n.*182T>C | |
| NM_000017.3:c.*182T>C | NP_000008.1:n.*182T>C | |
| NM_001302554.1:c.*182T>C | NP_001289483.1:n.*182T>C | |
| NM_000017.4:c.*182T>C MANE Select | NP_000008.1:n.*182T>C | |
| NM_001302554.2:c.*182T>C | NP_001289483.1:n.*182T>C |