Linked Data
ClinVar Variation Id:
2140317
ClinVar RCV Id:
RCV003053053
dbSNP Id:
rs373545953
ExAC:
10:112338382 A / G
gnomAD v2:
10-112338382-A-G
gnomAD v3:
10-110578624-A-G
gnomAD v4:
10-110578624-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578624A>G , CM000672.2:g.110578624A>G | GRCh38 |
| NC_000010.10:g.112338382A>G , CM000672.1:g.112338382A>G | GRCh37 |
| NC_000010.9:g.112328372A>G | NCBI36 |
| NG_012217.1:g.15934A>G , LRG_774:g.15934A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.484-4A>G | ||
| ENST00000687823.1:n.265-4A>G | ||
| ENST00000689932.1:n.2414-4A>G | ||
| ENST00000691297.1:n.484-4A>G | ||
| ENST00000691527.1:n.1150A>G | ||
| ENST00000692792.1:n.470-4A>G | ||
| ENST00000361804.5:c.351-4A>G MANE Select | ENSP00000354720.5:n.351-4A>G | |
| ENST00000361804.4:c.351-4A>G | ENSP00000354720.4:n.351-4A>G | |
| ENST00000462899.1:n.497-4A>G | ||
| NM_005445.3:c.351-4A>G , LRG_774t1:c.351-4A>G | NP_005436.1:n.351-4A>G | |
| NM_005445.4:c.351-4A>G MANE Select | NP_005436.1:n.351-4A>G |