HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410996A>C , CM000677.2:g.48410996A>C | GRCh38 |
NC_000015.9:g.48703193A>C , CM000677.1:g.48703193A>C | GRCh37 |
NC_000015.8:g.46490485A>C | NCBI36 |
NG_008805.2:g.239793T>G , LRG_778:g.239793T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1418T>G | ENSP00000453958.2:n.*1418T>G | |
ENST00000682158.1:n.1991T>G | ||
ENST00000682170.1:n.2791T>G | ||
ENST00000682767.1:n.1907T>G | ||
ENST00000316623.10:c.8610T>G MANE Select | ENSP00000325527.5:p.Leu2870= | |
ENST00000316623.9:c.8610T>G | ENSP00000325527.5:p.Leu2870= | |
ENST00000559133.5:c.3979T>G | ||
NM_000138.4:c.8610T>G , LRG_778t1:c.8610T>G | NP_000129.3:p.Leu2870= | |
NM_000138.5:c.8610T>G MANE Select | NP_000129.3:p.Leu2870= |