Linked Data
dbSNP Id:
rs751047854
ExAC:
17:1554273 A / C
gnomAD v2:
17-1554273-A-C
gnomAD v3:
17-1650979-A-C
gnomAD v4:
17-1650979-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650979A>C , CM000679.2:g.1650979A>C | GRCh38 |
| NC_000017.10:g.1554273A>C , CM000679.1:g.1554273A>C | GRCh37 |
| NC_000017.9:g.1501023A>C | NCBI36 |
| NG_009118.1:g.38904T>G | |
| NG_033061.1:g.4120T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6674-23T>G | ENSP00000460849.2:n.6674-23T>G | |
| ENST00000703537.1:c.2602-23T>G | ||
| ENST00000703538.1:c.*6577-23T>G | ENSP00000515361.1:n.*6577-23T>G | |
| ENST00000703539.1:n.3168-23T>G | ||
| ENST00000703540.1:c.6707-23T>G | ENSP00000515362.1:n.6707-23T>G | |
| ENST00000703541.1:c.6719-23T>G | ENSP00000515363.1:n.6719-23T>G | |
| ENST00000304992.11:c.6854-23T>G MANE Select | ENSP00000304350.6:n.6854-23T>G | |
| ENST00000304992.10:c.6854-23T>G | ENSP00000304350.6:n.6854-23T>G | |
| ENST00000571958.1:c.162+129T>G | ||
| ENST00000572621.5:c.6854-23T>G | ENSP00000460348.1:n.6854-23T>G | |
| ENST00000572723.1:n.843-23T>G | ||
| NM_006445.3:c.6854-23T>G | NP_006436.3:n.6854-23T>G | |
| XM_024450537.1:c.6854-23T>G | XP_024306305.1:n.6854-23T>G | |
| NM_006445.4:c.6854-23T>G MANE Select | NP_006436.3:n.6854-23T>G |