Linked Data
ClinVar Variation Id:
1238059
ClinVar RCV Id:
RCV001637607
dbSNP Id:
rs20563
ExAC:
1:183085755 A / G
gnomAD v2:
1-183085755-A-G
gnomAD v3:
1-183116620-A-G
gnomAD v4:
1-183116620-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183116620A>G , CM000663.2:g.183116620A>G | GRCh38 |
| NC_000001.10:g.183085755A>G , CM000663.1:g.183085755A>G | GRCh37 |
| NC_000001.9:g.181352378A>G | NCBI36 |
| NG_011463.1:g.98161A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258341.5:c.1372A>G MANE Select | ENSP00000258341.3:p.Ile458Val | |
| ENST00000258341.4:c.1372A>G | ENSP00000258341.3:p.Ile458Val | |
| ENST00000479499.1:n.425A>G | ||
| NM_002293.3:c.1372A>G | NP_002284.3:p.Ile458Val | |
| NM_002293.4:c.1372A>G MANE Select | NP_002284.3:p.Ile458Val |