HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154576071C>A , CM000663.2:g.154576071C>A | GRCh38 |
NC_000001.10:g.154548547C>A , CM000663.1:g.154548547C>A | GRCh37 |
NC_000001.9:g.152815171C>A | NCBI36 |
NG_008027.1:g.13291C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368476.4:c.*139C>A MANE Select | ENSP00000357461.3:n.*139C>A | |
ENST00000636034.1:c.1505+143C>A | ENSP00000489703.1:n.1505+143C>A | |
ENST00000637900.1:c.*139C>A | ENSP00000490474.1:n.*139C>A | |
ENST00000368476.3:c.*139C>A | ENSP00000357461.3:n.*139C>A | |
NM_000748.2:c.*139C>A | NP_000739.1:n.*139C>A | |
XM_017000180.2:c.*139C>A | XP_016855669.1:n.*139C>A | |
XR_001736952.2:n.1900C>A | ||
NM_000748.3:c.*139C>A MANE Select | NP_000739.1:n.*139C>A |