HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169630016T>C , CM000663.2:g.169630016T>C | GRCh38 |
NC_000001.10:g.169599254T>C , CM000663.1:g.169599254T>C | GRCh37 |
NC_000001.9:g.167865878T>C | NCBI36 |
NG_012125.1:g.5124A>G | |
NG_012125.2:g.5124A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263686.11:c.3+56A>G MANE Select | ENSP00000263686.5:n.3+56A>G | |
ENST00000263686.10:c.3+56A>G | ENSP00000263686.5:n.3+56A>G | |
ENST00000367786.6:c.3+56A>G | ENSP00000356760.1:n.3+56A>G | |
ENST00000367788.6:c.3+56A>G | ENSP00000356762.1:n.3+56A>G | |
ENST00000367795.2:c.3+56A>G | ENSP00000356769.2:n.3+56A>G | |
ENST00000458599.6:c.3+56A>G | ENSP00000399368.2:n.3+56A>G | |
NM_003005.3:c.3+56A>G | NP_002996.2:n.3+56A>G | |
XM_005245435.1:c.3+56A>G | XP_005245492.1:n.3+56A>G | |
XM_005245436.2:c.3+56A>G | XP_005245493.1:n.3+56A>G | |
XM_005245438.1:c.3+56A>G | XP_005245495.1:n.3+56A>G | |
XM_005245439.1:c.3+56A>G | XP_005245496.1:n.3+56A>G | |
XM_005245440.1:c.3+56A>G | XP_005245497.1:n.3+56A>G | |
XM_005245435.2:c.3+56A>G | XP_005245492.1:n.3+56A>G | |
XM_005245436.4:c.3+56A>G | XP_005245493.1:n.3+56A>G | |
XM_005245438.2:c.3+56A>G | XP_005245495.1:n.3+56A>G | |
XM_005245439.2:c.3+56A>G | XP_005245496.1:n.3+56A>G | |
XM_005245440.2:c.3+56A>G | XP_005245497.1:n.3+56A>G | |
NM_003005.4:c.3+56A>G MANE Select | NP_002996.2:n.3+56A>G |