Linked Data
ClinVar Variation Id:
402858
ClinVar RCV Id:
RCV000455244
dbSNP Id:
rs2290834
ExAC:
1:161599571 T / C
gnomAD v2:
1-161599571-T-C
gnomAD v3:
1-161629781-T-C
gnomAD v4:
1-161629781-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161629781T>C , CM000663.2:g.161629781T>C | GRCh38 |
| NC_000001.10:g.161599571T>C , CM000663.1:g.161599571T>C | GRCh37 |
| NC_000001.9:g.159866195T>C | NCBI36 |
| NG_032926.1:g.7183A>G | |
| NG_032926.2:g.7183A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000421702.4:c.313A>G | ENSP00000394204.3:p.Ile105Val | |
| ENST00000533780.2:n.692A>G | ||
| ENST00000699402.1:c.40+1274A>G | ENSP00000514363.1:n.40+1274A>G | |
| ENST00000699403.1:c.61+587A>G | ENSP00000514364.1:n.61+587A>G | |
| ENST00000699523.1:n.233A>G | ||
| ENST00000421702.3:c.313A>G | ENSP00000394204.3:p.Ile105Val | |
| ENST00000650385.1:c.316A>G MANE Select | ENSP00000497461.1:p.Ile106Val | |
| ENST00000294800.7:c.316A>G | ENSP00000294800.3:p.Ile106Val | |
| ENST00000367964.6:c.316A>G | ENSP00000356941.2:p.Ile106Val | |
| ENST00000421702.2:c.377A>G | ||
| ENST00000531221.5:c.424A>G | ENSP00000433642.1:p.Ile142Val | |
| ENST00000533780.1:n.470A>G | ||
| ENST00000534776.1:c.265A>G | ENSP00000437084.1:p.Ile89Val | |
| ENST00000613418.4:c.265A>G | ENSP00000482838.1:p.Ile89Val | |
| ENST00000614870.4:c.265A>G | ENSP00000478466.1:p.Ile89Val | |
| NM_000570.4:c.316A>G | NP_000561.3:p.Ile106Val | |
| NM_001244753.1:c.424A>G | NP_001231682.1:p.Ile142Val | |
| NM_001271035.1:c.421A>G | NP_001257964.1:p.Ile141Val | |
| NM_001271036.1:c.265A>G | NP_001257965.1:p.Ile89Val | |
| NM_001271037.1:c.265A>G | NP_001257966.1:p.Ile89Val | |
| NM_001244753.2:c.316A>G MANE Select | NP_001231682.2:p.Ile106Val | |
| NM_001271035.2:c.313A>G | NP_001257964.2:p.Ile105Val | |
| NM_000570.5:c.316A>G | NP_000561.3:p.Ile106Val | |
| NM_001271036.2:c.265A>G | NP_001257965.1:p.Ile89Val | |
| NM_001271037.2:c.265A>G | NP_001257966.1:p.Ile89Val |