HGVS | Genome Assembly |
---|---|
NC_000015.10:g.66781046G>A , CM000677.2:g.66781046G>A | GRCh38 |
NC_000015.9:g.67073384G>A , CM000677.1:g.67073384G>A | GRCh37 |
NC_000015.8:g.64860438G>A | NCBI36 |
NG_012244.1:g.83711G>A | |
NG_012244.2:g.83711G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000288840.10:c.1002G>A MANE Select | ENSP00000288840.5:p.Val334= | |
ENST00000288840.9:c.1002G>A | ENSP00000288840.5:p.Val334= | |
ENST00000557916.5:c.1134G>A | ENSP00000452955.1:n.1134G>A | |
ENST00000559931.5:c.306G>A | ENSP00000453446.1:n.306G>A | |
NM_005585.4:c.1002G>A | NP_005576.3:p.Val334= | |
NR_027654.1:n.2057G>A | ||
XM_011521561.1:c.219G>A | XP_011519863.1:p.Val73= | |
XR_931825.1:n.2401G>A | ||
XM_011521561.2:c.219G>A | XP_011519863.1:p.Val73= | |
NM_005585.5:c.1002G>A MANE Select | NP_005576.3:p.Val334= | |
NR_027654.2:n.2157G>A |