Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160139941C>T , CM000663.2:g.160139941C>T | GRCh38 |
| NC_000001.10:g.160109731C>T , CM000663.1:g.160109731C>T | GRCh37 |
| NC_000001.9:g.158376355C>T | NCBI36 |
| NG_008014.1:g.29184C>T , LRG_6:g.29184C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.2991C>T MANE Select | ENSP00000354490.3:p.Ile997= | |
| ENST00000361216.7:c.2991C>T | ENSP00000354490.3:p.Ile997= | |
| ENST00000392233.7:c.2958C>T | ENSP00000376066.3:p.Ile986= | |
| ENST00000447527.1:c.2072C>T | ||
| ENST00000463989.1:n.327C>T | ||
| NM_000702.3:c.2991C>T | NP_000693.1:p.Ile997= | |
| NM_000702.4:c.2991C>T MANE Select | NP_000693.1:p.Ile997= |