Linked Data
dbSNP Id:
rs748570152
ExAC:
9:894193 C / G
gnomAD v2:
9-894193-C-G
gnomAD v3:
9-894193-C-G
gnomAD v4:
9-894193-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.894193C>G , CM000671.2:g.894193C>G | GRCh38 |
| NC_000009.11:g.894193C>G , CM000671.1:g.894193C>G | GRCh37 |
| NC_000009.10:g.884193C>G | NCBI36 |
| NG_009221.1:g.57504C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.820C>G MANE Select | ENSP00000371711.3:p.Gln274Glu | |
| ENST00000382276.7:c.820C>G | ENSP00000371711.3:p.Gln274Glu | |
| ENST00000564322.1:n.969C>G | ||
| ENST00000569227.1:c.346C>G | ENSP00000454701.1:p.Gln116Glu | |
| NM_021951.2:c.820C>G | NP_068770.2:p.Gln274Glu | |
| XM_006716732.1:c.820C>G | XP_006716795.1:p.Gln274Glu | |
| XM_011517770.1:c.868C>G | XP_011516072.1:p.Gln290Glu | |
| XM_011517771.1:c.868C>G | XP_011516073.1:p.Gln290Glu | |
| XM_011517772.1:c.868C>G | XP_011516074.1:p.Gln290Glu | |
| XM_011517773.1:c.346C>G | XP_011516075.1:p.Gln116Glu | |
| NM_001363767.1:c.346C>G | NP_001350696.1:p.Gln116Glu | |
| XM_011517773.3:c.346C>G | XP_011516075.1:p.Gln116Glu | |
| XM_017014374.1:c.587-22570C>G | XP_016869863.1:n.587-22570C>G | |
| XM_017014375.1:c.539-22570C>G | XP_016869864.1:n.539-22570C>G | |
| XM_024447434.1:c.274C>G | XP_024303202.1:p.Gln92Glu | |
| NM_021951.3:c.820C>G MANE Select | NP_068770.2:p.Gln274Glu |