Linked Data
dbSNP Id:
rs774545380
ExAC:
10:112361730 C / G
gnomAD v2:
10-112361730-C-G
gnomAD v4:
10-110601972-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601972C>G , CM000672.2:g.110601972C>G | GRCh38 |
| NC_000010.10:g.112361730C>G , CM000672.1:g.112361730C>G | GRCh37 |
| NC_000010.9:g.112351720C>G | NCBI36 |
| NG_012217.1:g.39282C>G , LRG_774:g.39282C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5132C>G | ||
| ENST00000685743.1:n.2607C>G | ||
| ENST00000686057.1:n.1250C>G | ||
| ENST00000689321.1:n.1862C>G | ||
| ENST00000689986.1:n.688C>G | ||
| ENST00000361804.5:c.2899C>G MANE Select | ENSP00000354720.5:p.Arg967Gly | |
| ENST00000361804.4:c.2899C>G | ENSP00000354720.4:p.Arg967Gly | |
| NM_005445.3:c.2899C>G , LRG_774t1:c.2899C>G | NP_005436.1:p.Arg967Gly | |
| NM_005445.4:c.2899C>G MANE Select | NP_005436.1:p.Arg967Gly |