HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154993059G>A , CM000685.2:g.154993059G>A | GRCh38 |
NC_000023.10:g.154221334G>A , CM000685.1:g.154221334G>A | GRCh37 |
NC_000023.9:g.153874528G>A | NCBI36 |
NG_011403.1:g.34665C>T | |
NG_011403.2:g.34665C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.478C>T MANE Select | ENSP00000353393.4:p.Leu160= | |
ENST00000647125.1:c.*264C>T | ENSP00000496062.1:n.*264C>T | |
ENST00000360256.8:c.478C>T | ENSP00000353393.4:p.Leu160= | |
ENST00000423959.5:c.373C>T | ENSP00000409446.1:p.Leu125= | |
ENST00000453950.1:c.460C>T | ENSP00000389153.1:p.Leu154= | |
NM_000132.3:c.478C>T | NP_000123.1:p.Leu160= | |
XM_011531126.1:c.373C>T | XP_011529428.1:p.Leu125= | |
NM_000132.4:c.478C>T MANE Select | NP_000123.1:p.Leu160= |