Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526772G= , CM000681.2:g.7526772G= | GRCh38 |
| NC_000019.9:g.7591658G= , CM000681.1:g.7591658G= | GRCh37 |
| NC_000019.8:g.7497658G= | NCBI36 |
| NG_015806.1:g.9163G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.417G= MANE Select | ENSP00000264079.5:p.Leu139= | |
| ENST00000264079.10:c.417G= | ENSP00000264079.5:p.Leu139= | |
| ENST00000394321.9:n.497G= | ||
| ENST00000596008.1:n.379G= | ||
| ENST00000598406.1:n.238G= | ||
| ENST00000601003.1:c.417G= | ENSP00000469074.1:p.Leu139= | |
| NM_020533.2:c.417G= | NP_065394.1:p.Leu139= | |
| NM_020533.3:c.417G= MANE Select | NP_065394.1:p.Leu139= |