HGVS | Genome Assembly |
---|---|
NC_000003.12:g.119807502G>A , CM000665.2:g.119807502G>A | GRCh38 |
NC_000003.11:g.119526349G>A , CM000665.1:g.119526349G>A | GRCh37 |
NC_000003.10:g.121009039G>A | NCBI36 |
NG_011856.1:g.32019G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393716.8:c.197+55G>A MANE Select | ENSP00000377319.3:n.197+55G>A | |
ENST00000466380.6:c.197+55G>A | ENSP00000420297.2:n.197+55G>A | |
ENST00000648112.1:c.*275G>A | ENSP00000497876.1:n.*275G>A | |
ENST00000337940.4:c.314+55G>A | ENSP00000336528.4:n.314+55G>A | |
ENST00000393716.6:c.197+55G>A | ENSP00000377319.2:n.197+55G>A | |
ENST00000466380.5:c.197+55G>A | ENSP00000420297.1:n.197+55G>A | |
ENST00000474090.1:n.485+55G>A | ||
NM_003889.3:c.197+55G>A | NP_003880.3:n.197+55G>A | |
NM_022002.2:c.314+55G>A | NP_071285.1:n.314+55G>A | |
NM_033013.2:c.197+55G>A | NP_148934.1:n.197+55G>A | |
NM_003889.4:c.197+55G>A MANE Select | NP_003880.3:n.197+55G>A | |
NM_022002.3:c.314+55G>A | NP_071285.1:n.314+55G>A | |
NM_033013.3:c.197+55G>A | NP_148934.1:n.197+55G>A |