Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32104797G>A , CM000684.2:g.32104797G>A | GRCh38 |
| NC_000022.10:g.32500784G>A , CM000684.1:g.32500784G>A | GRCh37 |
| NC_000022.9:g.30830784G>A | NCBI36 |
| NG_017045.1:g.66766G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.1677G>A MANE Select | ENSP00000266088.4:p.Leu559= | |
| ENST00000266088.8:c.1677G>A | ENSP00000266088.4:p.Leu559= | |
| ENST00000543737.2:c.1296G>A | ENSP00000444898.1:p.Leu432= | |
| NM_000343.3:c.1677G>A | NP_000334.1:p.Leu559= | |
| NM_001256314.1:c.1296G>A | NP_001243243.1:p.Leu432= | |
| XR_938173.1:n.591+2041C>T | ||
| XR_938174.1:n.486+15058C>T | ||
| NM_000343.4:c.1677G>A MANE Select | NP_000334.1:p.Leu559= | |
| NM_001256314.2:c.1296G>A | NP_001243243.1:p.Leu432= |