Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780462C>G , CM000679.2:g.6780462C>G | GRCh38 |
| NC_000017.10:g.6683781C>G , CM000679.1:g.6683781C>G | GRCh37 |
| NC_000017.9:g.6624505C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.594C>G MANE Select | ENSP00000321386.4:p.Leu198= | |
| ENST00000321535.4:c.594C>G | ENSP00000321386.4:p.Leu198= | |
| NM_153230.2:c.594C>G | NP_694962.1:p.Leu198= | |
| XM_011523697.1:c.594C>G | XP_011521999.1:p.Leu198= | |
| XR_243544.3:n.772C>G | ||
| NM_153230.3:c.594C>G MANE Select | NP_694962.1:p.Leu198= |