Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022673G= , CM000663.2:g.17022673G= | GRCh38 |
| NC_000001.10:g.17349168G= , CM000663.1:g.17349168G= | GRCh37 |
| NC_000001.9:g.17221755G= | NCBI36 |
| NG_012340.1:g.36498C= , LRG_316:g.36498C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.529C= | ENSP00000481376.2:p.Leu177= | |
| ENST00000491274.6:c.658C= | ENSP00000480482.2:p.Leu220= | |
| ENST00000375499.8:c.700C= MANE Select | ENSP00000364649.3:p.Leu234= | |
| ENST00000375499.7:c.700C= | ENSP00000364649.3:p.Leu234= | |
| ENST00000475049.5:n.125C= | ||
| ENST00000485092.5:n.364C= | ||
| ENST00000485515.5:n.634C= | ||
| NM_003000.2:c.700C= , LRG_316t1:c.700C= | NP_002991.2:p.Leu234= | |
| NM_003000.3:c.700C= MANE Select | NP_002991.2:p.Leu234= |