HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7528695C>G , CM000681.2:g.7528695C>G | GRCh38 |
NC_000019.9:g.7593581C>G , CM000681.1:g.7593581C>G | GRCh37 |
NC_000019.8:g.7499581C>G | NCBI36 |
NG_015806.1:g.11086C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.976C>G MANE Select | ENSP00000264079.5:p.Leu326Val | |
ENST00000264079.10:c.976C>G | ENSP00000264079.5:p.Leu326Val | |
ENST00000394321.9:n.1291C>G | ||
ENST00000595860.5:n.42C>G | ||
NM_020533.2:c.976C>G | NP_065394.1:p.Leu326Val | |
NM_020533.3:c.976C>G MANE Select | NP_065394.1:p.Leu326Val |