HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24259108G>C , CM000676.2:g.24259108G>C | GRCh38 |
NC_000014.8:g.24728314G>C , CM000676.1:g.24728314G>C | GRCh37 |
NC_000014.7:g.23798154G>C | NCBI36 |
NG_007150.1:g.9059C>G | |
NG_007150.2:g.9059C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.1126C>G MANE Select | ENSP00000206765.6:p.Gln376Glu | |
ENST00000206765.10:c.1126C>G | ENSP00000206765.6:p.Gln376Glu | |
ENST00000544573.5:c.-28-720C>G | ENSP00000439446.1:n.-28-720C>G | |
ENST00000559136.1:c.199C>G | ENSP00000453337.1:p.Gln67Glu | |
NM_000359.2:c.1126C>G | NP_000350.1:p.Gln376Glu | |
NM_000359.3:c.1126C>G MANE Select | NP_000350.1:p.Gln376Glu |