Linked Data
dbSNP Id:
rs189984206
ExAC:
15:91425137 A / G
gnomAD v2:
15-91425137-A-G
gnomAD v3:
15-90881907-A-G
gnomAD v4:
15-90881907-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90881907A>G , CM000677.2:g.90881907A>G | GRCh38 |
| NC_000015.9:g.91425137A>G , CM000677.1:g.91425137A>G | GRCh37 |
| NC_000015.8:g.89226141A>G | NCBI36 |
| NG_029671.1:g.2450A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268171.8:c.*29A>G MANE Select | ENSP00000268171.2:n.*29A>G | |
| ENST00000680053.1:c.*29A>G | ENSP00000506143.1:n.*29A>G | |
| ENST00000680086.1:n.323+170A>G | ||
| ENST00000680687.1:c.*1638A>G | ENSP00000505177.1:n.*1638A>G | |
| ENST00000681804.1:c.*1774A>G | ENSP00000505828.1:n.*1774A>G | |
| ENST00000681865.1:c.*29A>G | ENSP00000505303.1:n.*29A>G | |
| ENST00000268171.7:c.*29A>G | ENSP00000268171.2:n.*29A>G | |
| ENST00000610579.4:c.*29A>G | ENSP00000484952.1:n.*29A>G | |
| ENST00000618099.4:c.*29A>G | ENSP00000483552.1:n.*29A>G | |
| NM_001289823.1:c.*29A>G | NP_001276752.1:n.*29A>G | |
| NM_001289824.1:c.*29A>G | NP_001276753.1:n.*29A>G | |
| NM_002569.3:c.*29A>G | NP_002560.1:n.*29A>G | |
| NM_002569.4:c.*29A>G MANE Select | NP_002560.1:n.*29A>G | |
| NM_001289823.2:c.*29A>G | NP_001276752.1:n.*29A>G | |
| NM_001289824.2:c.*29A>G | NP_001276753.1:n.*29A>G | |
| NM_001382619.1:c.*29A>G | NP_001369548.1:n.*29A>G | |
| NM_001382620.1:c.*29A>G | NP_001369549.1:n.*29A>G | |
| NM_001382621.1:c.*29A>G | NP_001369550.1:n.*29A>G | |
| NM_001382622.1:c.*445A>G | NP_001369551.1:n.*445A>G | |
| NR_168464.1:n.2637A>G |