Linked Data
dbSNP Id:
rs761051335
ExAC:
12:56115761 A / G
gnomAD v2:
12-56115761-A-G
gnomAD v3:
12-55721977-A-G
gnomAD v4:
12-55721977-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55721977A>G , CM000674.2:g.55721977A>G | GRCh38 |
| NC_000012.11:g.56115761A>G , CM000674.1:g.56115761A>G | GRCh37 |
| NC_000012.10:g.54402028A>G | NCBI36 |
| NG_008606.1:g.6611A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257895.10:c.569+30A>G MANE Select | ENSP00000257895.6:n.569+30A>G | |
| ENST00000257895.9:c.569+30A>G | ENSP00000257895.5:n.569+30A>G | |
| ENST00000257899.3:c.591+23A>G | ||
| ENST00000547072.5:c.278+30A>G | ENSP00000449927.1:n.278+30A>G | |
| ENST00000548082.1:c.569+30A>G | ENSP00000447128.1:n.569+30A>G | |
| ENST00000548123.1:c.300+483A>G | ||
| ENST00000548486.1:n.609A>G | ||
| ENST00000550412.5:c.*271A>G | ENSP00000447650.1:n.*271A>G | |
| ENST00000550608.1:n.738A>G | ||
| ENST00000551946.5:c.*402A>G | ENSP00000450201.1:n.*402A>G | |
| ENST00000553160.1:n.406-218A>G | ||
| ENST00000553187.5:n.609A>G | ||
| NM_001199771.1:c.569+30A>G | NP_001186700.1:n.569+30A>G | |
| NM_002905.3:c.569+30A>G | NP_002896.2:n.569+30A>G | |
| NR_037658.1:n.628+30A>G | ||
| NM_001199771.2:c.569+30A>G | NP_001186700.1:n.569+30A>G | |
| NM_002905.5:c.569+30A>G MANE Select | NP_002896.2:n.569+30A>G | |
| NM_001199771.3:c.569+30A>G | NP_001186700.1:n.569+30A>G |