Linked Data
dbSNP Id:
rs1174062059
gnomAD v2:
6-32008814-C-G
gnomAD v3:
6-32041037-C-G
gnomAD v4:
6-32041037-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32041037C>G , CM000668.2:g.32041037C>G | GRCh38 |
| NC_000006.11:g.32008814C>G , CM000668.1:g.32008814C>G | GRCh37 |
| NC_000006.10:g.32116793C>G | NCBI36 |
| NG_007941.2:g.7730C>G | |
| NG_008337.2:g.73338G>C | |
| NG_007941.3:g.7733C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1391C>G MANE Select | ENSP00000496625.1:p.Pro464Arg | |
| ENST00000418967.6:c.1391C>G | ENSP00000408860.2:p.Pro464Arg | |
| ENST00000435122.3:c.1301C>G | ENSP00000415043.2:p.Pro434Arg | |
| ENST00000479074.5:n.1532C>G | ||
| ENST00000479730.5:n.1507C>G | ||
| ENST00000483041.5:n.1560C>G | ||
| ENST00000486063.5:n.1370C>G | ||
| NM_000500.7:c.1391C>G | NP_000491.4:p.Pro464Arg | |
| NM_001128590.3:c.1301C>G | NP_001122062.3:p.Pro434Arg | |
| XM_011514314.1:c.986C>G | XP_011512616.1:p.Pro329Arg | |
| NM_000500.9:c.1391C>G MANE Select | NP_000491.4:p.Pro464Arg | |
| NM_001368143.1:c.986C>G | NP_001355072.1:p.Pro329Arg | |
| NM_001368144.1:c.986C>G | NP_001355073.1:p.Pro329Arg | |
| NM_001128590.4:c.1301C>G | NP_001122062.3:p.Pro434Arg | |
| NM_001368143.2:c.986C>G | NP_001355072.1:p.Pro329Arg | |
| NM_001368144.2:c.986C>G | NP_001355073.1:p.Pro329Arg |