HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10412968A>G , CM000682.2:g.10412968A>G | GRCh38 |
NC_000020.10:g.10393616A>G , CM000682.1:g.10393616A>G | GRCh37 |
NC_000020.9:g.10341616A>G | NCBI36 |
NG_009109.1:g.26251T>C | |
NG_009109.2:g.26251T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651692.1:c.547T>C | ENSP00000498849.1:p.Leu183= | |
ENST00000652676.1:n.459-268T>C | ||
ENST00000347364.7:c.547T>C MANE Select | ENSP00000246062.4:p.Leu183= | |
ENST00000399054.6:c.547T>C | ENSP00000382008.2:p.Leu183= | |
NM_018848.3:c.547T>C | NP_061336.1:p.Leu183= | |
NM_170784.2:c.547T>C | NP_740754.1:p.Leu183= | |
NR_072977.1:n.364-4165T>C | ||
NR_072977.2:n.347-4165T>C | ||
NM_170784.3:c.547T>C MANE Select | NP_740754.1:p.Leu183= |