Linked Data
ClinVar Variation Id:
361191
ClinVar RCV Id:
RCV000353805
dbSNP Id:
rs60196627
gnomAD v2:
8-10464075-A-C
gnomAD v3:
8-10606565-A-C
gnomAD v4:
8-10606565-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10606565A>C , CM000670.2:g.10606565A>C | GRCh38 |
| NC_000008.10:g.10464075A>C , CM000670.1:g.10464075A>C | GRCh37 |
| NC_000008.9:g.10501485A>C | NCBI36 |
| NG_028035.1:g.53543T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.*330T>G MANE Select | ENSP00000371923.3:n.*330T>G | |
| ENST00000382483.3:c.*330T>G | ENSP00000371923.3:n.*330T>G | |
| NM_178857.5:c.*330T>G | NP_849188.4:n.*330T>G | |
| NM_178857.6:c.*330T>G MANE Select | NP_849188.4:n.*330T>G |