Linked Data
ClinVar Variation Id:
3216881
ClinVar RCV Id:
RCV004514744
dbSNP Id:
rs773224032
ExAC:
3:87309142 C / T
gnomAD v2:
3-87309142-C-T
gnomAD v3:
3-87259992-C-T
gnomAD v4:
3-87259992-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87259992C>T , CM000665.2:g.87259992C>T | GRCh38 |
| NC_000003.11:g.87309142C>T , CM000665.1:g.87309142C>T | GRCh37 |
| NC_000003.10:g.87391832C>T | NCBI36 |
| NG_008225.2:g.21596G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344265.8:c.856G>A | ENSP00000342931.3:p.Val286Ile | |
| ENST00000350375.7:c.778G>A MANE Select | ENSP00000263781.2:p.Val260Ile | |
| ENST00000344265.7:c.856G>A | ENSP00000342931.3:p.Val286Ile | |
| ENST00000350375.6:c.778G>A | ENSP00000263781.2:p.Val260Ile | |
| ENST00000560656.1:c.552G>A | ENSP00000452610.1:n.552G>A | |
| ENST00000561167.5:c.553G>A | ENSP00000454072.1:p.Val185Ile | |
| NM_000306.3:c.778G>A | NP_000297.1:p.Val260Ile | |
| NM_001122757.2:c.856G>A | NP_001116229.1:p.Val286Ile | |
| NM_000306.4:c.778G>A MANE Select | NP_000297.1:p.Val260Ile | |
| NM_001122757.3:c.856G>A | NP_001116229.1:p.Val286Ile |