Linked Data
dbSNP Id:
rs771711850
ExAC:
1:230825791 A / G
gnomAD v2:
1-230825791-A-G
gnomAD v3:
1-230690045-A-G
gnomAD v4:
1-230690045-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230690045A>G , CM000663.2:g.230690045A>G | GRCh38 |
| NC_000001.10:g.230825791A>G , CM000663.1:g.230825791A>G | GRCh37 |
| NC_000001.9:g.228892414A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366669.9:c.1826A>G MANE Select | ENSP00000355629.4:p.Asp609Gly | |
| ENST00000366668.7:c.1823A>G | ENSP00000355628.3:p.Asp608Gly | |
| ENST00000366669.8:c.1826A>G | ENSP00000355629.4:p.Asp609Gly | |
| ENST00000468893.6:c.*1684A>G | ENSP00000476305.1:n.*1684A>G | |
| ENST00000478710.1:n.85A>G | ||
| ENST00000490900.1:n.605A>G | ||
| ENST00000534989.1:c.1649A>G | ENSP00000440349.1:p.Asp550Gly | |
| NM_001145036.1:c.1823A>G | NP_001138508.1:p.Asp608Gly | |
| NM_007357.2:c.1826A>G | NP_031383.1:p.Asp609Gly | |
| NM_007357.3:c.1826A>G MANE Select | NP_031383.1:p.Asp609Gly | |
| NM_001145036.2:c.1823A>G | NP_001138508.1:p.Asp608Gly |