HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132526T>G , CM000669.2:g.147132526T>G | GRCh38 |
NC_000007.13:g.146829618T>G , CM000669.1:g.146829618T>G | GRCh37 |
NC_000007.12:g.146460551T>G | NCBI36 |
NG_007092.2:g.1021166T>G | |
NG_007092.3:g.1021526T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361727.8:c.1348+17T>G MANE Select | ENSP00000354778.3:n.1348+17T>G | |
ENST00000636561.1:n.1251+17T>G | ||
ENST00000636870.1:n.1210+17T>G | ||
ENST00000637150.1:n.1277+17T>G | ||
ENST00000637694.1:n.1251+17T>G | ||
ENST00000637825.1:n.831+17T>G | ||
ENST00000638117.1:n.1251+17T>G | ||
ENST00000361727.7:c.1348+17T>G | ENSP00000354778.3:n.1348+17T>G | |
NM_014141.5:c.1348+17T>G | NP_054860.1:n.1348+17T>G | |
XM_017011950.2:c.1348+17T>G | XP_016867439.1:n.1348+17T>G | |
NM_014141.6:c.1348+17T>G MANE Select | NP_054860.1:n.1348+17T>G |