HGVS | Genome Assembly |
---|---|
NC_000003.12:g.191357072C>A , CM000665.2:g.191357072C>A | GRCh38 |
NC_000003.11:g.191074861C>A , CM000665.1:g.191074861C>A | GRCh37 |
NC_000003.10:g.192557555C>A | NCBI36 |
NG_008994.1:g.32988C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392455.9:c.50-16C>A MANE Select | ENSP00000376249.4:n.50-16C>A | |
ENST00000392456.4:c.50-16C>A | ENSP00000376250.4:n.50-16C>A | |
ENST00000392455.7:c.50-16C>A | ENSP00000376249.3:n.50-16C>A | |
ENST00000392456.3:c.50-16C>A | ENSP00000376250.3:n.50-16C>A | |
NM_174908.3:c.50-16C>A | NP_777568.1:n.50-16C>A | |
NM_178335.2:c.50-16C>A | NP_848018.1:n.50-16C>A | |
XM_011512460.1:c.50-16C>A | XP_011510762.1:n.50-16C>A | |
NM_178335.3:c.50-16C>A MANE Select | NP_848018.1:n.50-16C>A | |
NM_174908.4:c.50-16C>A | NP_777568.1:n.50-16C>A |