Linked Data
dbSNP Id:
rs754201366
ExAC:
10:112333509 T / G
gnomAD v2:
10-112333509-T-G
gnomAD v4:
10-110573751-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110573751T>G , CM000672.2:g.110573751T>G | GRCh38 |
| NC_000010.10:g.112333509T>G , CM000672.1:g.112333509T>G | GRCh37 |
| NC_000010.9:g.112323499T>G | NCBI36 |
| NG_012217.1:g.11061T>G , LRG_774:g.11061T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.263+6T>G | ||
| ENST00000687823.1:n.45-1585T>G | ||
| ENST00000689932.1:n.609T>G | ||
| ENST00000691297.1:n.263+6T>G | ||
| ENST00000691527.1:n.220+6T>G | ||
| ENST00000692792.1:n.249+6T>G | ||
| ENST00000361804.5:c.130+6T>G MANE Select | ENSP00000354720.5:n.130+6T>G | |
| ENST00000361804.4:c.130+6T>G | ENSP00000354720.4:n.130+6T>G | |
| ENST00000462899.1:n.276+6T>G | ||
| NM_005445.3:c.130+6T>G , LRG_774t1:c.130+6T>G | NP_005436.1:n.130+6T>G | |
| NM_005445.4:c.130+6T>G MANE Select | NP_005436.1:n.130+6T>G |