Linked Data
dbSNP Id:
rs771265619
ExAC:
10:112361600 C / G
gnomAD v2:
10-112361600-C-G
gnomAD v3:
10-110601842-C-G
gnomAD v4:
10-110601842-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601842C>G , CM000672.2:g.110601842C>G | GRCh38 |
| NC_000010.10:g.112361600C>G , CM000672.1:g.112361600C>G | GRCh37 |
| NC_000010.9:g.112351590C>G | NCBI36 |
| NG_012217.1:g.39152C>G , LRG_774:g.39152C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5083C>G | ||
| ENST00000685743.1:n.2558C>G | ||
| ENST00000686057.1:n.1201C>G | ||
| ENST00000689321.1:n.1813C>G | ||
| ENST00000689986.1:n.639C>G | ||
| ENST00000361804.5:c.2850C>G MANE Select | ENSP00000354720.5:p.Pro950= | |
| ENST00000361804.4:c.2850C>G | ENSP00000354720.4:p.Pro950= | |
| NM_005445.3:c.2850C>G , LRG_774t1:c.2850C>G | NP_005436.1:p.Pro950= | |
| NM_005445.4:c.2850C>G MANE Select | NP_005436.1:p.Pro950= |