Linked Data
dbSNP Id:
rs759186790
ExAC:
10:112349665 A / G
gnomAD v2:
10-112349665-A-G
gnomAD v4:
10-110589907-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589907A>G , CM000672.2:g.110589907A>G | GRCh38 |
| NC_000010.10:g.112349665A>G , CM000672.1:g.112349665A>G | GRCh37 |
| NC_000010.9:g.112339655A>G | NCBI36 |
| NG_012217.1:g.27217A>G , LRG_774:g.27217A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1325A>G | ||
| ENST00000684988.1:n.2070A>G | ||
| ENST00000687823.1:n.1339A>G | ||
| ENST00000689932.1:n.3488A>G | ||
| ENST00000691297.1:n.1558A>G | ||
| ENST00000691527.1:n.2228A>G | ||
| ENST00000692792.1:n.1544A>G | ||
| ENST00000361804.5:c.1425A>G MANE Select | ENSP00000354720.5:p.Glu475= | |
| ENST00000361804.4:c.1425A>G | ENSP00000354720.4:p.Glu475= | |
| NM_005445.3:c.1425A>G , LRG_774t1:c.1425A>G | NP_005436.1:p.Glu475= | |
| NM_005445.4:c.1425A>G MANE Select | NP_005436.1:p.Glu475= |