HGVS | Genome Assembly |
---|---|
NC_000019.10:g.41128246G>A , CM000681.2:g.41128246G>A | GRCh38 |
NC_000019.9:g.41634151G>A , CM000681.1:g.41634151G>A | GRCh37 |
NC_000019.8:g.46325991G>A | NCBI36 |
NG_007930.1:g.18799G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331105.7:c.*164G>A MANE Select | ENSP00000333534.2:n.*164G>A | |
ENST00000331105.6:c.*164G>A | ENSP00000333534.2:n.*164G>A | |
ENST00000439903.2:c.590G>A | ||
ENST00000532164.2:c.*619G>A | ENSP00000471416.1:n.*619G>A | |
NM_000774.3:c.*164G>A | NP_000765.2:n.*164G>A | |
XM_011526553.1:c.*164G>A | XP_011524855.1:n.*164G>A | |
XM_011526555.1:c.*229G>A | XP_011524857.1:n.*229G>A | |
XR_935756.1:n.1794G>A | ||
NM_000774.4:c.*164G>A | NP_000765.2:n.*164G>A | |
NR_135528.1:n.1654G>A | ||
XM_011526553.2:c.*164G>A | XP_011524855.1:n.*164G>A | |
XM_011526555.3:c.*229G>A | XP_011524857.1:n.*229G>A | |
XM_017026385.1:c.*164G>A | XP_016881874.1:n.*164G>A | |
NM_000774.5:c.*164G>A MANE Select | NP_000765.2:n.*164G>A | |
NR_135528.2:n.1654G>A |