HGVS | Genome Assembly |
---|---|
NC_000014.9:g.76371345G= , CM000676.2:g.76371345G= | GRCh38 |
NC_000014.8:g.76837688G= , CM000676.1:g.76837688G= | GRCh37 |
NC_000014.7:g.75907441G= | NCBI36 |
NG_012278.1:g.4999G= | |
NG_012278.2:g.4999G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000512784.6:c.2+60429G= | ENSP00000424992.2:n.2+60429G= | |
ENST00000505752.5:c.-373G= | ENSP00000423004.1:n.-373G= | |
ENST00000512784.5:c.2+60429G= | ENSP00000424992.1:n.2+60429G= | |
XM_011536548.1:c.-373G= | XP_011534850.1:n.-373G= | |
NM_004452.4:c.-373G= | NP_004443.3:n.-373G= |