HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99845690G>C , CM000672.2:g.99845690G>C | GRCh38 |
NC_000010.10:g.101605447G>C , CM000672.1:g.101605447G>C | GRCh37 |
NC_000010.9:g.101595437G>C | NCBI36 |
NG_011798.1:g.67985G>C | |
NG_011798.2:g.68093G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647814.1:c.4054G>C MANE Select | ENSP00000497274.1:p.Glu1352Gln | |
ENST00000649459.1:n.402G>C | ||
ENST00000370449.8:c.4054G>C | ENSP00000359478.4:p.Glu1352Gln | |
NM_000392.4:c.4054G>C | NP_000383.1:p.Glu1352Gln | |
XM_006717630.2:c.3358G>C | XP_006717693.1:p.Glu1120Gln | |
XR_945604.1:n.4184G>C | ||
XR_945605.1:n.4118G>C | ||
NM_000392.5:c.4054G>C MANE Select | NP_000383.2:p.Glu1352Gln | |
XM_006717630.3:c.3358G>C | XP_006717693.1:p.Glu1120Gln | |
XR_945604.3:n.4238G>C | ||
XR_945605.3:n.4170G>C |