HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149978001A>G , CM000667.2:g.149978001A>G | GRCh38 |
NC_000005.9:g.149357564A>G , CM000667.1:g.149357564A>G | GRCh37 |
NC_000005.8:g.149337757A>G | NCBI36 |
NG_007147.2:g.19119A>G , LRG_684:g.19119A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000690410.1:n.581A>G | ||
ENST00000286298.5:c.349A>G MANE Select | ENSP00000286298.4:p.Ile117Val | |
ENST00000286298.4:c.349A>G | ENSP00000286298.4:p.Ile117Val | |
ENST00000503336.1:c.22A>G | ENSP00000426053.1:p.Ile8Val | |
NM_000112.3:c.349A>G , LRG_684t1:c.349A>G | NP_000103.2:p.Ile117Val | |
XM_017009191.2:c.349A>G | XP_016864680.1:p.Ile117Val | |
NM_000112.4:c.349A>G MANE Select | NP_000103.2:p.Ile117Val |