Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780717G>A , CM000679.2:g.6780717G>A | GRCh38 |
| NC_000017.10:g.6684036G>A , CM000679.1:g.6684036G>A | GRCh37 |
| NC_000017.9:g.6624760G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.849G>A MANE Select | ENSP00000321386.4:p.Leu283= | |
| ENST00000321535.4:c.849G>A | ENSP00000321386.4:p.Leu283= | |
| NM_153230.2:c.849G>A | NP_694962.1:p.Leu283= | |
| XM_011523697.1:c.849G>A | XP_011521999.1:p.Leu283= | |
| XR_243544.3:n.1027G>A | ||
| NM_153230.3:c.849G>A MANE Select | NP_694962.1:p.Leu283= |