Linked Data
dbSNP Id:
rs72552757
gnomAD v2:
6-32008648-C-G
gnomAD v3:
6-32040871-C-G
gnomAD v4:
6-32040871-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040871C>G , CM000668.2:g.32040871C>G | GRCh38 |
| NC_000006.11:g.32008648C>G , CM000668.1:g.32008648C>G | GRCh37 |
| NC_000006.10:g.32116627C>G | NCBI36 |
| NG_007941.2:g.7564C>G | |
| NG_008337.2:g.73504G>C | |
| NG_007941.3:g.7567C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.1225C>G MANE Select | ENSP00000496625.1:p.Arg409Gly | |
| ENST00000418967.6:c.1225C>G | ENSP00000408860.2:p.Arg409Gly | |
| ENST00000435122.3:c.1135C>G | ENSP00000415043.2:p.Arg379Gly | |
| ENST00000479074.5:n.1366C>G | ||
| ENST00000479730.5:n.1341C>G | ||
| ENST00000483041.5:n.1394C>G | ||
| ENST00000486063.5:n.1204C>G | ||
| NM_000500.7:c.1225C>G | NP_000491.4:p.Arg409Gly | |
| NM_001128590.3:c.1135C>G | NP_001122062.3:p.Arg379Gly | |
| XM_011514314.1:c.820C>G | XP_011512616.1:p.Arg274Gly | |
| NM_000500.9:c.1225C>G MANE Select | NP_000491.4:p.Arg409Gly | |
| NM_001368143.1:c.820C>G | NP_001355072.1:p.Arg274Gly | |
| NM_001368144.1:c.820C>G | NP_001355073.1:p.Arg274Gly | |
| NM_001128590.4:c.1135C>G | NP_001122062.3:p.Arg379Gly | |
| NM_001368143.2:c.820C>G | NP_001355072.1:p.Arg274Gly | |
| NM_001368144.2:c.820C>G | NP_001355073.1:p.Arg274Gly |