Linked Data
ClinVar Variation Id:
298764
dbSNP Id:
rs779773957
ExAC:
10:112338404 C / T
gnomAD v2:
10-112338404-C-T
gnomAD v3:
10-110578646-C-T
gnomAD v4:
10-110578646-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578646C>T , CM000672.2:g.110578646C>T | GRCh38 |
| NC_000010.10:g.112338404C>T , CM000672.1:g.112338404C>T | GRCh37 |
| NC_000010.9:g.112328394C>T | NCBI36 |
| NG_012217.1:g.15956C>T , LRG_774:g.15956C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.502C>T | ||
| ENST00000687823.1:n.283C>T | ||
| ENST00000689932.1:n.2432C>T | ||
| ENST00000691297.1:n.502C>T | ||
| ENST00000691527.1:n.1172C>T | ||
| ENST00000692792.1:n.488C>T | ||
| ENST00000361804.5:c.369C>T MANE Select | ENSP00000354720.5:p.Asn123= | |
| ENST00000361804.4:c.369C>T | ENSP00000354720.4:p.Asn123= | |
| ENST00000462899.1:n.515C>T | ||
| NM_005445.3:c.369C>T , LRG_774t1:c.369C>T | NP_005436.1:p.Asn123= | |
| NM_005445.4:c.369C>T MANE Select | NP_005436.1:p.Asn123= |