Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946367A= , CM000684.2:g.43946367A= | GRCh38 |
| NC_000022.10:g.44342247A= , CM000684.1:g.44342247A= | GRCh37 |
| NC_000022.9:g.42673580A= | NCBI36 |
| NG_008631.1:g.27629A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.1431A= MANE Select | ENSP00000216180.3:p.Leu477= | |
| ENST00000216180.7:c.1431A= | ENSP00000216180.3:p.Leu477= | |
| ENST00000406117.6:c.*849+1572A= | ENSP00000384668.2:n.*849+1572A= | |
| ENST00000423180.2:c.1419A= | ENSP00000397987.2:p.Leu473= | |
| NM_025225.2:c.1431A= | NP_079501.2:p.Leu477= | |
| NM_025225.3:c.1431A= MANE Select | NP_079501.2:p.Leu477= |