Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525125C>G , CM000681.2:g.7525125C>G | GRCh38 |
| NC_000019.9:g.7590011C>G , CM000681.1:g.7590011C>G | GRCh37 |
| NC_000019.8:g.7496011C>G | NCBI36 |
| NG_015806.1:g.7516C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.196C>G MANE Select | ENSP00000264079.5:p.Leu66Val | |
| ENST00000264079.10:c.196C>G | ENSP00000264079.5:p.Leu66Val | |
| ENST00000394321.9:n.276C>G | ||
| ENST00000596390.1:n.312C>G | ||
| ENST00000601003.1:c.196C>G | ENSP00000469074.1:p.Leu66Val | |
| NM_020533.2:c.196C>G | NP_065394.1:p.Leu66Val | |
| NM_020533.3:c.196C>G MANE Select | NP_065394.1:p.Leu66Val |