Linked Data
ClinVar Variation Id:
529475
ClinVar RCV Id:
RCV000634926
dbSNP Id:
rs751365223
ExAC:
6:24503584 A / G
gnomAD v2:
6-24503584-A-G
gnomAD v3:
6-24503356-A-G
gnomAD v4:
6-24503356-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503356A>G , CM000668.2:g.24503356A>G | GRCh38 |
| NC_000006.11:g.24503584A>G , CM000668.1:g.24503584A>G | GRCh37 |
| NC_000006.10:g.24611563A>G | NCBI36 |
| NG_008161.1:g.13388A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.532A>G MANE Select | ENSP00000350191.3:p.Ile178Val | |
| ENST00000672352.1:c.295A>G | ENSP00000500876.1:p.Ile99Val | |
| ENST00000672557.1:c.450A>G | ||
| ENST00000672652.1:c.453A>G | ||
| ENST00000675422.1:n.1292A>G | ||
| ENST00000348925.2:c.532A>G | ENSP00000314649.3:p.Ile178Val | |
| ENST00000357578.7:c.532A>G | ENSP00000350191.3:p.Ile178Val | |
| ENST00000491546.5:c.448A>G | ENSP00000417687.1:p.Ile150Val | |
| NM_001080.3:c.532A>G MANE Select | NP_001071.1:p.Ile178Val | |
| NM_170740.1:c.532A>G | NP_733936.1:p.Ile178Val | |
| NM_001368954.1:c.532A>G | NP_001355883.1:p.Ile178Val |