HGVS | Genome Assembly |
---|---|
NC_000015.10:g.66781001C>G , CM000677.2:g.66781001C>G | GRCh38 |
NC_000015.9:g.67073339C>G , CM000677.1:g.67073339C>G | GRCh37 |
NC_000015.8:g.64860393C>G | NCBI36 |
NG_012244.1:g.83666C>G | |
NG_012244.2:g.83666C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000288840.10:c.957C>G MANE Select | ENSP00000288840.5:p.Ala319= | |
ENST00000288840.9:c.957C>G | ENSP00000288840.5:p.Ala319= | |
ENST00000557916.5:c.1089C>G | ENSP00000452955.1:n.1089C>G | |
ENST00000559931.5:c.261C>G | ENSP00000453446.1:n.261C>G | |
NM_005585.4:c.957C>G | NP_005576.3:p.Ala319= | |
NR_027654.1:n.2012C>G | ||
XM_011521561.1:c.174C>G | XP_011519863.1:p.Ala58= | |
XR_931825.1:n.2356C>G | ||
XM_011521561.2:c.174C>G | XP_011519863.1:p.Ala58= | |
NM_005585.5:c.957C>G MANE Select | NP_005576.3:p.Ala319= | |
NR_027654.2:n.2112C>G |