HGVS | Genome Assembly |
---|---|
NC_000006.12:g.35805896G>C , CM000668.2:g.35805896G>C | GRCh38 |
NC_000006.11:g.35773673G>C , CM000668.1:g.35773673G>C | GRCh37 |
NC_000006.10:g.35881651G>C | NCBI36 |
NG_012184.1:g.5603G>C | |
NG_012184.2:g.5603G>C | |
NG_012184.3:g.13691G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360215.3:c.226G>C MANE Select | ENSP00000353346.1:p.Glu76Gln | |
ENST00000651132.1:c.226G>C | ENSP00000498322.1:p.Glu76Gln | |
ENST00000651676.1:c.226G>C | ENSP00000498699.1:p.Glu76Gln | |
ENST00000651994.1:c.226G>C | ENSP00000498310.1:p.Glu76Gln | |
ENST00000652718.1:c.58G>C | ENSP00000498866.1:p.Glu20Gln | |
ENST00000360215.2:c.226G>C | ENSP00000353346.1:p.Glu76Gln | |
NM_182548.3:c.226G>C | NP_872354.1:p.Glu76Gln | |
XM_011514403.1:c.226G>C | XP_011512705.1:p.Glu76Gln | |
NM_182548.4:c.226G>C MANE Select | NP_872354.1:p.Glu76Gln |