Linked Data
dbSNP Id:
rs781303378
ExAC:
10:112338381 A / G
gnomAD v2:
10-112338381-A-G
gnomAD v4:
10-110578623-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578623A>G , CM000672.2:g.110578623A>G | GRCh38 |
| NC_000010.10:g.112338381A>G , CM000672.1:g.112338381A>G | GRCh37 |
| NC_000010.9:g.112328371A>G | NCBI36 |
| NG_012217.1:g.15933A>G , LRG_774:g.15933A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.484-5A>G | ||
| ENST00000687823.1:n.265-5A>G | ||
| ENST00000689932.1:n.2414-5A>G | ||
| ENST00000691297.1:n.484-5A>G | ||
| ENST00000691527.1:n.1149A>G | ||
| ENST00000692792.1:n.470-5A>G | ||
| ENST00000361804.5:c.351-5A>G MANE Select | ENSP00000354720.5:n.351-5A>G | |
| ENST00000361804.4:c.351-5A>G | ENSP00000354720.4:n.351-5A>G | |
| ENST00000462899.1:n.497-5A>G | ||
| NM_005445.3:c.351-5A>G , LRG_774t1:c.351-5A>G | NP_005436.1:n.351-5A>G | |
| NM_005445.4:c.351-5A>G MANE Select | NP_005436.1:n.351-5A>G |