Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7524974T>G , CM000681.2:g.7524974T>G | GRCh38 |
| NC_000019.9:g.7589860T>G , CM000681.1:g.7589860T>G | GRCh37 |
| NC_000019.8:g.7495860T>G | NCBI36 |
| NG_015806.1:g.7365T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.45T>G MANE Select | ENSP00000264079.5:p.Leu15= | |
| ENST00000264079.10:c.45T>G | ENSP00000264079.5:p.Leu15= | |
| ENST00000394321.9:n.125T>G | ||
| ENST00000596390.1:n.161T>G | ||
| ENST00000601003.1:c.45T>G | ENSP00000469074.1:p.Leu15= | |
| NM_020533.2:c.45T>G | NP_065394.1:p.Leu15= | |
| XR_936293.2:n.7A>C | ||
| XR_936294.2:n.7A>C | ||
| NM_020533.3:c.45T>G MANE Select | NP_065394.1:p.Leu15= |