Linked Data
ClinVar Variation Id:
3086745
ClinVar RCV Id:
RCV004382123
dbSNP Id:
rs772133152
ExAC:
16:67228791 C / G
gnomAD v2:
16-67228791-C-G
gnomAD v4:
16-67194888-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67194888C>G , CM000678.2:g.67194888C>G | GRCh38 |
| NC_000016.9:g.67228791C>G , CM000678.1:g.67228791C>G | GRCh37 |
| NC_000016.8:g.65786292C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379378.8:c.716C>G MANE Select | ENSP00000368686.3:p.Ala239Gly | |
| ENST00000379378.7:c.716C>G | ENSP00000368686.3:p.Ala239Gly | |
| ENST00000561904.5:n.867C>G | ||
| ENST00000567007.5:n.1295C>G | ||
| ENST00000568839.5:c.*166C>G | ENSP00000458082.1:n.*166C>G | |
| ENST00000569573.1:c.*144C>G | ENSP00000457239.1:n.*144C>G | |
| NM_001950.3:c.716C>G | NP_001941.2:p.Ala239Gly | |
| XR_002957786.1:n.784C>G | ||
| NM_001950.4:c.716C>G MANE Select | NP_001941.2:p.Ala239Gly |