HGVS | Genome Assembly |
---|---|
NC_000015.10:g.64414060G>A , CM000677.2:g.64414060G>A | GRCh38 |
NC_000015.9:g.64706259G>A , CM000677.1:g.64706259G>A | GRCh37 |
NC_000015.8:g.62493312G>A | NCBI36 |
NG_046848.1:g.31257G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261884.8:c.1044-25G>A MANE Select | ENSP00000261884.3:n.1044-25G>A | |
ENST00000261884.7:c.1044-25G>A | ENSP00000261884.3:n.1044-25G>A | |
ENST00000560475.1:c.111+4232G>A | ||
ENST00000560567.5:c.1043+4232G>A | ENSP00000453106.1:n.1043+4232G>A | |
NM_016213.4:c.1044-25G>A | NP_057297.2:n.1044-25G>A | |
XM_005254789.1:c.354-25G>A | XP_005254846.1:n.354-25G>A | |
XR_243130.1:n.1101+4232G>A | ||
NM_001321924.1:c.354-25G>A | NP_001308853.1:n.354-25G>A | |
NR_135855.1:n.1103+4232G>A | ||
NM_001321924.2:c.354-25G>A | NP_001308853.1:n.354-25G>A | |
NM_016213.5:c.1044-25G>A MANE Select | NP_057297.2:n.1044-25G>A | |
NR_135855.2:n.1071+4232G>A |