HGVS | Genome Assembly |
---|---|
NC_000020.11:g.61928263G>A , CM000682.2:g.61928263G>A | GRCh38 |
NC_000020.10:g.60503321G>A , CM000682.1:g.60503321G>A | GRCh37 |
NC_000020.9:g.59936716G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614565.5:c.1845G>A MANE Select | ENSP00000484928.1:p.Leu615= | |
ENST00000543233.2:c.1623G>A | ENSP00000443301.1:p.Leu541= | |
ENST00000611855.4:c.1563G>A | ENSP00000480844.1:p.Leu521= | |
ENST00000614565.4:c.1845G>A | ENSP00000484928.1:p.Leu615= | |
NM_001252338.2:c.1734G>A | NP_001239267.1:p.Leu578= | |
NM_001252339.2:c.1623G>A | NP_001239268.1:p.Leu541= | |
NM_001794.4:c.1845G>A | NP_001785.2:p.Leu615= | |
NM_001794.5:c.1845G>A MANE Select | NP_001785.2:p.Leu615= | |
NM_001252339.3:c.1623G>A | NP_001239268.1:p.Leu541= |