HGVS | Genome Assembly |
---|---|
NC_000003.12:g.45921260T>C , CM000665.2:g.45921260T>C | GRCh38 |
NC_000003.11:g.45962752T>C , CM000665.1:g.45962752T>C | GRCh37 |
NC_000003.10:g.45937756T>C | NCBI36 |
NG_031955.1:g.79565A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296137.7:c.*505A>G MANE Select | ENSP00000296137.2:n.*505A>G | |
ENST00000296137.6:c.*505A>G | ENSP00000296137.2:n.*505A>G | |
ENST00000433878.5:c.1308A>G | ||
ENST00000535325.5:c.*505A>G | ENSP00000441178.1:n.*505A>G | |
NM_024513.3:c.*505A>G | NP_078789.2:n.*505A>G | |
XM_006713333.2:c.*505A>G | XP_006713396.1:n.*505A>G | |
XM_006713334.2:c.*505A>G | XP_006713397.1:n.*505A>G | |
XM_011534111.1:c.*505A>G | XP_011532413.1:n.*505A>G | |
XR_245157.1:n.5157A>G | ||
XM_006713333.3:c.*505A>G | XP_006713396.1:n.*505A>G | |
XM_006713334.3:c.*505A>G | XP_006713397.1:n.*505A>G | |
XM_011534111.3:c.*505A>G | XP_011532413.1:n.*505A>G | |
NM_024513.4:c.*505A>G MANE Select | NP_078789.2:n.*505A>G | |
NM_001386421.1:c.*505A>G | NP_001373350.1:n.*505A>G | |
NM_001386422.1:c.*505A>G | NP_001373351.1:n.*505A>G | |
NM_001386423.1:c.*505A>G | NP_001373352.1:n.*505A>G | |
NM_001386425.1:c.4362-2195A>G | NP_001373354.1:n.4362-2195A>G | |
NM_001386426.1:c.*505A>G | NP_001373355.1:n.*505A>G | |
NM_001386427.1:c.*505A>G | NP_001373356.1:n.*505A>G | |
NM_001386429.1:c.4252-2195A>G | NP_001373358.1:n.4252-2195A>G | |
NM_001386430.1:c.*505A>G | NP_001373359.1:n.*505A>G | |
NR_170107.1:n.5157A>G |