HGVS | Genome Assembly |
---|---|
NC_000023.11:g.67711653C>A , CM000685.2:g.67711653C>A | GRCh38 |
NC_000023.10:g.66931495C>A , CM000685.1:g.66931495C>A | GRCh37 |
NC_000023.9:g.66848220C>A | NCBI36 |
NG_009014.2:g.172622C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000396043.4:c.*485C>A | ENSP00000379358.4:n.*485C>A | |
ENST00000374690.9:c.2137C>A MANE Select | ENSP00000363822.3:p.Leu713Ile | |
ENST00000396043.3:c.764C>A | ENSP00000379358.3:n.764C>A | |
ENST00000396044.8:c.2137C>A | ENSP00000379359.3:p.Leu713Ile | |
ENST00000612452.5:c.2137C>A | ENSP00000484033.2:p.Leu713Ile | |
ENST00000374690.7:c.2137C>A | ENSP00000363822.3:p.Leu713Ile | |
ENST00000396043.2:c.541C>A | ENSP00000379358.2:p.Leu181Ile | |
ENST00000396044.7:c.2137C>A | ENSP00000379359.3:p.Leu713Ile | |
ENST00000612452.4:c.1567C>A | ENSP00000484033.1:p.Leu523Ile | |
NM_000044.3:c.2137C>A | NP_000035.2:p.Leu713Ile | |
NM_001011645.2:c.541C>A | NP_001011645.1:p.Leu181Ile | |
NM_000044.4:c.2137C>A | NP_000035.2:p.Leu713Ile | |
NM_001011645.3:c.541C>A | NP_001011645.1:p.Leu181Ile | |
NM_000044.6:c.2137C>A MANE Select | NP_000035.2:p.Leu713Ile |