HGVS | Genome Assembly |
---|---|
NC_000019.10:g.853420C>A , CM000681.2:g.853420C>A | GRCh38 |
NC_000019.9:g.853420C>A , CM000681.1:g.853420C>A | GRCh37 |
NC_000019.8:g.804420C>A | NCBI36 |
NG_009627.1:g.6130C>A , LRG_57:g.6130C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263621.2:c.366+17C>A MANE Select | ENSP00000263621.1:n.366+17C>A | |
ENST00000263621.1:c.366+17C>A | ENSP00000263621.1:n.366+17C>A | |
ENST00000590230.5:c.366+17C>A | ENSP00000466090.1:n.366+17C>A | |
NM_001972.2:c.366+17C>A , LRG_57t1:c.366+17C>A | NP_001963.1:n.366+17C>A | |
XM_011527775.1:c.366+17C>A | XP_011526077.1:n.366+17C>A | |
XM_011527776.1:c.366+17C>A | XP_011526078.1:n.366+17C>A | |
NM_001972.3:c.366+17C>A | NP_001963.1:n.366+17C>A | |
NM_001972.4:c.366+17C>A MANE Select | NP_001963.1:n.366+17C>A |