Linked Data
dbSNP Id:
rs1420078280
gnomAD v2:
17-1554290-T-C
gnomAD v3:
17-1650996-T-C
gnomAD v4:
17-1650996-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650996T>C , CM000679.2:g.1650996T>C | GRCh38 |
| NC_000017.10:g.1554290T>C , CM000679.1:g.1554290T>C | GRCh37 |
| NC_000017.9:g.1501040T>C | NCBI36 |
| NG_009118.1:g.38887A>G | |
| NG_033061.1:g.4103A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6674-40A>G | ENSP00000460849.2:n.6674-40A>G | |
| ENST00000703537.1:c.2602-40A>G | ||
| ENST00000703538.1:c.*6577-40A>G | ENSP00000515361.1:n.*6577-40A>G | |
| ENST00000703539.1:n.3168-40A>G | ||
| ENST00000703540.1:c.6707-40A>G | ENSP00000515362.1:n.6707-40A>G | |
| ENST00000703541.1:c.6719-40A>G | ENSP00000515363.1:n.6719-40A>G | |
| ENST00000304992.11:c.6854-40A>G MANE Select | ENSP00000304350.6:n.6854-40A>G | |
| ENST00000304992.10:c.6854-40A>G | ENSP00000304350.6:n.6854-40A>G | |
| ENST00000571958.1:c.162+112A>G | ||
| ENST00000572621.5:c.6854-40A>G | ENSP00000460348.1:n.6854-40A>G | |
| ENST00000572723.1:n.843-40A>G | ||
| NM_006445.3:c.6854-40A>G | NP_006436.3:n.6854-40A>G | |
| XM_024450537.1:c.6854-40A>G | XP_024306305.1:n.6854-40A>G | |
| NM_006445.4:c.6854-40A>G MANE Select | NP_006436.3:n.6854-40A>G |