HGVS | Genome Assembly |
---|---|
NC_000003.12:g.39397010G>A , CM000665.2:g.39397010G>A | GRCh38 |
NC_000003.11:g.39438501G>A , CM000665.1:g.39438501G>A | GRCh37 |
NC_000003.10:g.39413505G>A | NCBI36 |
NG_016931.1:g.18687G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000643672.1:c.*490G>A | ENSP00000494532.1:n.*490G>A | |
ENST00000648579.1:c.*702G>A | ENSP00000497638.1:n.*702G>A | |
ENST00000650617.1:c.*490G>A MANE Select | ENSP00000497532.1:n.*490G>A | |
ENST00000273158.8:c.*490G>A | ENSP00000273158.3:n.*490G>A | |
NM_017875.2:c.*490G>A | NP_060345.2:n.*490G>A | |
XM_006713214.1:c.*490G>A | XP_006713277.1:n.*490G>A | |
XM_011533869.1:c.*490G>A | XP_011532171.1:n.*490G>A | |
XM_011533870.1:c.*490G>A | XP_011532172.1:n.*490G>A | |
XM_011533871.1:c.*490G>A | XP_011532173.1:n.*490G>A | |
NM_001354798.1:c.*524G>A | NP_001341727.1:n.*524G>A | |
NM_017875.4:c.*490G>A MANE Select | NP_060345.2:n.*490G>A | |
XM_006713214.2:c.*490G>A | XP_006713277.1:n.*490G>A | |
XM_011533869.2:c.*490G>A | XP_011532171.1:n.*490G>A | |
XM_024453611.1:c.*490G>A | XP_024309379.1:n.*490G>A | |
NM_001354798.2:c.*524G>A | NP_001341727.1:n.*524G>A |