Linked Data
ClinVar Variation Id:
2233873
ClinVar RCV Id:
RCV002718189
dbSNP Id:
rs559827555
ExAC:
8:10470418 C / T
gnomAD v2:
8-10470418-C-T
gnomAD v3:
8-10612908-C-T
gnomAD v4:
8-10612908-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612908C>T , CM000670.2:g.10612908C>T | GRCh38 |
| NC_000008.10:g.10470418C>T , CM000670.1:g.10470418C>T | GRCh37 |
| NC_000008.9:g.10507828C>T | NCBI36 |
| NG_028035.1:g.47200G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1190G>A MANE Select | ENSP00000371923.3:p.Arg397Gln | |
| ENST00000382483.3:c.1190G>A | ENSP00000371923.3:p.Arg397Gln | |
| NM_178857.5:c.1190G>A | NP_849188.4:p.Arg397Gln | |
| NM_178857.6:c.1190G>A MANE Select | NP_849188.4:p.Arg397Gln |