Linked Data
ClinVar Variation Id:
2576661
ClinVar RCV Id:
RCV003322966
dbSNP Id:
rs769172583
ExAC:
1:209974593 T / C
gnomAD v2:
1-209974593-T-C
gnomAD v3:
1-209801248-T-C
gnomAD v4:
1-209801248-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209801248T>C , CM000663.2:g.209801248T>C | GRCh38 |
| NC_000001.10:g.209974593T>C , CM000663.1:g.209974593T>C | GRCh37 |
| NC_000001.9:g.208041216T>C | NCBI36 |
| NG_007081.2:g.9887A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.166A>G | ENSP00000512426.1:p.Ile56Val | |
| ENST00000696134.1:c.166A>G | ENSP00000512427.1:p.Ile56Val | |
| ENST00000367021.8:c.166A>G MANE Select | ENSP00000355988.3:p.Ile56Val | |
| ENST00000643798.1:c.166A>G | ENSP00000496669.1:p.Ile56Val | |
| ENST00000367021.7:c.166A>G | ENSP00000355988.3:p.Ile56Val | |
| ENST00000456314.1:c.166A>G | ENSP00000403855.1:p.Ile56Val | |
| ENST00000542854.5:c.-111-4696A>G | ENSP00000440532.1:n.-111-4696A>G | |
| NM_001206696.1:c.-111-4696A>G | NP_001193625.1:n.-111-4696A>G | |
| NM_006147.3:c.166A>G | NP_006138.1:p.Ile56Val | |
| NM_006147.4:c.166A>G MANE Select | NP_006138.1:p.Ile56Val | |
| NM_001206696.2:c.-111-4696A>G | NP_001193625.1:n.-111-4696A>G |