HGVS | Genome Assembly |
---|---|
NC_000002.12:g.211383109C>T , CM000664.2:g.211383109C>T | GRCh38 |
NC_000002.11:g.212247834C>T , CM000664.1:g.212247834C>T | GRCh37 |
NC_000002.10:g.211956079C>T | NCBI36 |
NG_011805.1:g.1160519G>A | |
NG_011805.2:g.1160520G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000342788.9:c.*506G>A MANE Select | ENSP00000342235.4:n.*506G>A | |
ENST00000402597.6:c.4307G>A | ENSP00000385565.3:n.4307G>A | |
ENST00000342788.8:c.*506G>A | ENSP00000342235.4:n.*506G>A | |
ENST00000402597.5:c.*506G>A | ENSP00000385565.2:n.*506G>A | |
ENST00000436443.5:c.*506G>A | ENSP00000403204.1:n.*506G>A | |
NM_001042599.1:c.*506G>A | NP_001036064.1:n.*506G>A | |
NM_005235.2:c.*506G>A | NP_005226.1:n.*506G>A | |
XM_005246375.1:c.*506G>A | XP_005246432.1:n.*506G>A | |
XM_005246376.1:c.*506G>A | XP_005246433.1:n.*506G>A | |
XM_005246377.1:c.*506G>A | XP_005246434.1:n.*506G>A | |
XM_006712364.1:c.*506G>A | XP_006712427.1:n.*506G>A | |
XM_005246376.3:c.*506G>A | XP_005246433.1:n.*506G>A | |
XM_005246377.3:c.*506G>A | XP_005246434.1:n.*506G>A | |
XM_006712364.3:c.*506G>A | XP_006712427.1:n.*506G>A | |
XM_017003577.2:c.*506G>A | XP_016859066.1:n.*506G>A | |
XM_017003578.2:c.*506G>A | XP_016859067.1:n.*506G>A | |
XM_017003579.2:c.*506G>A | XP_016859068.1:n.*506G>A | |
XM_017003580.2:c.*506G>A | XP_016859069.1:n.*506G>A | |
XM_017003581.2:c.*506G>A | XP_016859070.1:n.*506G>A | |
XM_017003582.1:c.*506G>A | XP_016859071.1:n.*506G>A | |
NM_005235.3:c.*506G>A MANE Select | NP_005226.1:n.*506G>A |