Linked Data
ClinVar Variation Id:
361201
ClinVar RCV Id:
RCV000295346
dbSNP Id:
rs374533327
ExAC:
8:10464367 G / C
gnomAD v2:
8-10464367-G-C
gnomAD v3:
8-10606857-G-C
gnomAD v4:
8-10606857-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10606857G>C , CM000670.2:g.10606857G>C | GRCh38 |
| NC_000008.10:g.10464367G>C , CM000670.1:g.10464367G>C | GRCh37 |
| NC_000008.9:g.10501777G>C | NCBI36 |
| NG_028035.1:g.53251C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.*38C>G MANE Select | ENSP00000371923.3:n.*38C>G | |
| ENST00000382483.3:c.*38C>G | ENSP00000371923.3:n.*38C>G | |
| NM_178857.5:c.*38C>G | NP_849188.4:n.*38C>G | |
| NM_178857.6:c.*38C>G MANE Select | NP_849188.4:n.*38C>G |