HGVS | Genome Assembly |
---|---|
NC_000011.10:g.17553571G= , CM000673.2:g.17553571G= | GRCh38 |
NC_000011.9:g.17575118G= , CM000673.1:g.17575118G= | GRCh37 |
NC_000011.8:g.17531694G= | NCBI36 |
NG_033191.1:g.11199G= | |
NG_033191.2:g.11199G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399391.7:c.576+52G= | ENSP00000382323.2:n.576+52G= | |
ENST00000399397.6:c.540+52G= MANE Select | ENSP00000382329.2:n.540+52G= | |
ENST00000399391.6:c.576+52G= | ENSP00000382323.2:n.576+52G= | |
ENST00000399397.5:c.540+52G= | ENSP00000382329.2:n.540+52G= | |
ENST00000498332.5:n.446+52G= | ||
NM_001277269.1:c.576+52G= | NP_001264198.1:n.576+52G= | |
NM_001292063.1:c.540+52G= | NP_001278992.1:n.540+52G= | |
NM_001277269.2:c.576+52G= | NP_001264198.1:n.576+52G= | |
NM_001292063.2:c.540+52G= MANE Select | NP_001278992.1:n.540+52G= |