HGVS | Genome Assembly |
---|---|
NC_000011.10:g.17553477G>T , CM000673.2:g.17553477G>T | GRCh38 |
NC_000011.9:g.17575024G>T , CM000673.1:g.17575024G>T | GRCh37 |
NC_000011.8:g.17531600G>T | NCBI36 |
NG_033191.1:g.11105G>T | |
NG_033191.2:g.11105G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399391.7:c.534G>T | ENSP00000382323.2:p.Leu178= | |
ENST00000399397.6:c.498G>T MANE Select | ENSP00000382329.2:p.Leu166= | |
ENST00000399391.6:c.534G>T | ENSP00000382323.2:p.Leu178= | |
ENST00000399397.5:c.498G>T | ENSP00000382329.2:p.Leu166= | |
ENST00000498332.5:n.404G>T | ||
NM_001277269.1:c.534G>T | NP_001264198.1:p.Leu178= | |
NM_001292063.1:c.498G>T | NP_001278992.1:p.Leu166= | |
NM_001277269.2:c.534G>T | NP_001264198.1:p.Leu178= | |
NM_001292063.2:c.498G>T MANE Select | NP_001278992.1:p.Leu166= |