Linked Data
dbSNP Id:
rs150496227
ExAC:
6:32007603 G / C
gnomAD v2:
6-32007603-G-C
gnomAD v3:
6-32039826-G-C
gnomAD v4:
6-32039826-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039826G>C , CM000668.2:g.32039826G>C | GRCh38 |
| NC_000006.11:g.32007603G>C , CM000668.1:g.32007603G>C | GRCh37 |
| NC_000006.10:g.32115582G>C | NCBI36 |
| NG_007941.2:g.6519G>C | |
| NG_008337.2:g.74549C>G | |
| NG_007941.3:g.6522G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.729G>C MANE Select | ENSP00000496625.1:p.Arg243Ser | |
| ENST00000418967.6:c.729G>C | ENSP00000408860.2:p.Arg243Ser | |
| ENST00000435122.3:c.639G>C | ENSP00000415043.2:p.Arg213Ser | |
| ENST00000462278.1:n.418G>C | ||
| ENST00000479074.5:n.787G>C | ||
| ENST00000479730.5:n.845G>C | ||
| ENST00000483041.5:n.898G>C | ||
| ENST00000486063.5:n.909G>C | ||
| NM_000500.7:c.729G>C | NP_000491.4:p.Arg243Ser | |
| NM_001128590.3:c.639G>C | NP_001122062.3:p.Arg213Ser | |
| XM_011514314.1:c.324G>C | XP_011512616.1:p.Arg108Ser | |
| NM_000500.9:c.729G>C MANE Select | NP_000491.4:p.Arg243Ser | |
| NM_001368143.1:c.324G>C | NP_001355072.1:p.Arg108Ser | |
| NM_001368144.1:c.324G>C | NP_001355073.1:p.Arg108Ser | |
| NM_001128590.4:c.639G>C | NP_001122062.3:p.Arg213Ser | |
| NM_001368143.2:c.324G>C | NP_001355072.1:p.Arg108Ser | |
| NM_001368144.2:c.324G>C | NP_001355073.1:p.Arg108Ser |