HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022682G>A , CM000663.2:g.17022682G>A | GRCh38 |
NC_000001.10:g.17349177G>A , CM000663.1:g.17349177G>A | GRCh37 |
NC_000001.9:g.17221764G>A | NCBI36 |
NG_012340.1:g.36489C>T , LRG_316:g.36489C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.520C>T | ENSP00000481376.2:p.Leu174= | |
ENST00000491274.6:c.649C>T | ENSP00000480482.2:p.Leu217= | |
ENST00000375499.8:c.691C>T MANE Select | ENSP00000364649.3:p.Leu231= | |
ENST00000375499.7:c.691C>T | ENSP00000364649.3:p.Leu231= | |
ENST00000475049.5:n.116C>T | ||
ENST00000485092.5:n.355C>T | ||
ENST00000485515.5:n.625C>T | ||
NM_003000.2:c.691C>T , LRG_316t1:c.691C>T | NP_002991.2:p.Leu231= | |
NM_003000.3:c.691C>T MANE Select | NP_002991.2:p.Leu231= |