HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99845682G>A , CM000672.2:g.99845682G>A | GRCh38 |
NC_000010.10:g.101605439G>A , CM000672.1:g.101605439G>A | GRCh37 |
NC_000010.9:g.101595429G>A | NCBI36 |
NG_011798.1:g.67977G>A | |
NG_011798.2:g.68085G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647814.1:c.4046G>A MANE Select | ENSP00000497274.1:p.Arg1349Lys | |
ENST00000649459.1:n.394G>A | ||
ENST00000370449.8:c.4046G>A | ENSP00000359478.4:p.Arg1349Lys | |
NM_000392.4:c.4046G>A | NP_000383.1:p.Arg1349Lys | |
XM_006717630.2:c.3350G>A | XP_006717693.1:p.Arg1117Lys | |
XR_945604.1:n.4177-1G>A | ||
XR_945605.1:n.4110G>A | ||
NM_000392.5:c.4046G>A MANE Select | NP_000383.2:p.Arg1349Lys | |
XM_006717630.3:c.3350G>A | XP_006717693.1:p.Arg1117Lys | |
XR_945604.3:n.4231-1G>A | ||
XR_945605.3:n.4162G>A |