Linked Data
dbSNP Id:
rs142058202
ExAC:
6:32008210 G / C
gnomAD v2:
6-32008210-G-C
gnomAD v3:
6-32040433-G-C
gnomAD v4:
6-32040433-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040433G>C , CM000668.2:g.32040433G>C | GRCh38 |
| NC_000006.11:g.32008210G>C , CM000668.1:g.32008210G>C | GRCh37 |
| NC_000006.10:g.32116189G>C | NCBI36 |
| NG_007941.2:g.7126G>C | |
| NG_008337.2:g.73942C>G | |
| NG_007941.3:g.7129G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.967G>C MANE Select | ENSP00000496625.1:p.Asp323His | |
| ENST00000418967.6:c.967G>C | ENSP00000408860.2:p.Asp323His | |
| ENST00000435122.3:c.877G>C | ENSP00000415043.2:p.Asp293His | |
| ENST00000479074.5:n.1025G>C | ||
| ENST00000479730.5:n.1083G>C | ||
| ENST00000483041.5:n.1136G>C | ||
| ENST00000486063.5:n.946G>C | ||
| NM_000500.7:c.967G>C | NP_000491.4:p.Asp323His | |
| NM_001128590.3:c.877G>C | NP_001122062.3:p.Asp293His | |
| XM_011514314.1:c.562G>C | XP_011512616.1:p.Asp188His | |
| NM_000500.9:c.967G>C MANE Select | NP_000491.4:p.Asp323His | |
| NM_001368143.1:c.562G>C | NP_001355072.1:p.Asp188His | |
| NM_001368144.1:c.562G>C | NP_001355073.1:p.Asp188His | |
| NM_001128590.4:c.877G>C | NP_001122062.3:p.Asp293His | |
| NM_001368143.2:c.562G>C | NP_001355072.1:p.Asp188His | |
| NM_001368144.2:c.562G>C | NP_001355073.1:p.Asp188His |