HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99845626T>G , CM000672.2:g.99845626T>G | GRCh38 |
NC_000010.10:g.101605383T>G , CM000672.1:g.101605383T>G | GRCh37 |
NC_000010.9:g.101595373T>G | NCBI36 |
NG_011798.1:g.67921T>G | |
NG_011798.2:g.68029T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647814.1:c.3990T>G MANE Select | ENSP00000497274.1:p.Ile1330Met | |
ENST00000649459.1:n.338T>G | ||
ENST00000370449.8:c.3990T>G | ENSP00000359478.4:p.Ile1330Met | |
NM_000392.4:c.3990T>G | NP_000383.1:p.Ile1330Met | |
XM_006717630.2:c.3294T>G | XP_006717693.1:p.Ile1098Met | |
XR_945604.1:n.4177-57T>G | ||
XR_945605.1:n.4054T>G | ||
NM_000392.5:c.3990T>G MANE Select | NP_000383.2:p.Ile1330Met | |
XM_006717630.3:c.3294T>G | XP_006717693.1:p.Ile1098Met | |
XR_945604.3:n.4231-57T>G | ||
XR_945605.3:n.4106T>G |