Linked Data
ClinVar Variation Id:
849102
dbSNP Id:
rs147206805
ExAC:
1:68897005 T / C
gnomAD v2:
1-68897005-T-C
gnomAD v3:
1-68431322-T-C
gnomAD v4:
1-68431322-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431322T>C , CM000663.2:g.68431322T>C | GRCh38 |
| NC_000001.10:g.68897005T>C , CM000663.1:g.68897005T>C | GRCh37 |
| NC_000001.9:g.68669593T>C | NCBI36 |
| NG_008472.1:g.23638A>G | |
| NG_008472.2:g.23638A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1298A>G MANE Select | ENSP00000262340.5:p.Tyr433Cys | |
| ENST00000262340.5:c.1298A>G | ENSP00000262340.5:p.Tyr433Cys | |
| NM_000329.2:c.1298A>G | NP_000320.1:p.Tyr433Cys | |
| XM_017002027.1:c.1022A>G | XP_016857516.1:p.Tyr341Cys | |
| NM_000329.3:c.1298A>G MANE Select | NP_000320.1:p.Tyr433Cys |