HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177993020G>C , CM000667.2:g.177993020G>C | GRCh38 |
NC_000005.9:g.177420021G>C , CM000667.1:g.177420021G>C | GRCh37 |
NC_000005.8:g.177352627G>C | NCBI36 |
NG_015889.1:g.8223C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308304.2:c.370C>G MANE Select | ENSP00000311290.2:p.Gln124Glu | |
NM_006261.4:c.370C>G | NP_006252.3:p.Gln124Glu | |
NM_006261.5:c.370C>G MANE Select | NP_006252.4:p.Gln124Glu |