HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99845689A>T , CM000672.2:g.99845689A>T | GRCh38 |
NC_000010.10:g.101605446A>T , CM000672.1:g.101605446A>T | GRCh37 |
NC_000010.9:g.101595436A>T | NCBI36 |
NG_011798.1:g.67984A>T | |
NG_011798.2:g.68092A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647814.1:c.4053A>T MANE Select | ENSP00000497274.1:p.Leu1351Phe | |
ENST00000649459.1:n.401A>T | ||
ENST00000370449.8:c.4053A>T | ENSP00000359478.4:p.Leu1351Phe | |
NM_000392.4:c.4053A>T | NP_000383.1:p.Leu1351Phe | |
XM_006717630.2:c.3357A>T | XP_006717693.1:p.Leu1119Phe | |
XR_945604.1:n.4183A>T | ||
XR_945605.1:n.4117A>T | ||
NM_000392.5:c.4053A>T MANE Select | NP_000383.2:p.Leu1351Phe | |
XM_006717630.3:c.3357A>T | XP_006717693.1:p.Leu1119Phe | |
XR_945604.3:n.4237A>T | ||
XR_945605.3:n.4169A>T |