HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47339650C= , CM000673.2:g.47339650C= | GRCh38 |
NC_000011.9:g.47361201C= , CM000673.1:g.47361201C= | GRCh37 |
NC_000011.8:g.47317777C= | NCBI36 |
NG_007667.1:g.18053G= , LRG_386:g.18053G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.2067+1G= MANE Select | ENSP00000442795.1:n.2067+1G= | |
ENST00000256993.8:c.2067+1G= | ENSP00000256993.5:n.2067+1G= | |
ENST00000399249.6:c.2067+1G= | ENSP00000382193.2:n.2067+1G= | |
ENST00000544791.1:c.2067+1G= | ENSP00000444259.1:n.2067+1G= | |
ENST00000545968.5:c.2067+1G= | ENSP00000442795.1:n.2067+1G= | |
NM_000256.3:c.2067+1G= , LRG_386t1:c.2067+1G= MANE Select | NP_000247.2:n.2067+1G= | |
XM_011520117.1:c.2049+1G= | XP_011518419.1:n.2049+1G= | |
XM_011520118.1:c.2067+1G= | XP_011518420.1:n.2067+1G= |