HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99845676T>G , CM000672.2:g.99845676T>G | GRCh38 |
NC_000010.10:g.101605433T>G , CM000672.1:g.101605433T>G | GRCh37 |
NC_000010.9:g.101595423T>G | NCBI36 |
NG_011798.1:g.67971T>G | |
NG_011798.2:g.68079T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647814.1:c.4040T>G MANE Select | ENSP00000497274.1:p.Leu1347Arg | |
ENST00000649459.1:n.388T>G | ||
ENST00000370449.8:c.4040T>G | ENSP00000359478.4:p.Leu1347Arg | |
NM_000392.4:c.4040T>G | NP_000383.1:p.Leu1347Arg | |
XM_006717630.2:c.3344T>G | XP_006717693.1:p.Leu1115Arg | |
XR_945604.1:n.4177-7T>G | ||
XR_945605.1:n.4104T>G | ||
NM_000392.5:c.4040T>G MANE Select | NP_000383.2:p.Leu1347Arg | |
XM_006717630.3:c.3344T>G | XP_006717693.1:p.Leu1115Arg | |
XR_945604.3:n.4231-7T>G | ||
XR_945605.3:n.4156T>G |