Linked Data
ClinVar Variation Id:
2010952
ClinVar RCV Id:
RCV002851163
dbSNP Id:
rs1243228385
gnomAD v2:
5-110097405-A-G
gnomAD v4:
5-110761705-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110761705A>G , CM000667.2:g.110761705A>G | GRCh38 |
| NC_000005.9:g.110097405A>G , CM000667.1:g.110097405A>G | GRCh37 |
| NC_000005.8:g.110125304A>G | NCBI36 |
| NG_051334.1:g.28570A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355943.8:c.1180A>G MANE Select | ENSP00000348211.3:p.Ile394Val | |
| ENST00000355943.7:c.1180A>G | ENSP00000348211.3:p.Ile394Val | |
| ENST00000447245.6:c.937A>G | ENSP00000399717.2:p.Ile313Val | |
| ENST00000504098.1:c.742A>G | ENSP00000425708.1:p.Ile248Val | |
| ENST00000509432.1:c.541A>G | ENSP00000426604.1:p.Ile181Val | |
| ENST00000513706.2:n.2780A>G | ||
| ENST00000513807.5:c.694A>G | ENSP00000421134.1:p.Ile232Val | |
| NM_001303249.1:c.937A>G | NP_001290178.1:p.Ile313Val | |
| NM_001303250.1:c.907A>G | NP_001290179.1:p.Ile303Val | |
| NM_138773.2:c.1180A>G | NP_620128.1:p.Ile394Val | |
| NM_001303249.2:c.937A>G | NP_001290178.1:p.Ile313Val | |
| NM_001303250.2:c.907A>G | NP_001290179.1:p.Ile303Val | |
| NM_138773.3:c.1180A>G | NP_620128.1:p.Ile394Val | |
| NR_138151.1:n.1454A>G | ||
| NM_138773.4:c.1180A>G MANE Select | NP_620128.1:p.Ile394Val | |
| NM_001303249.3:c.937A>G | NP_001290178.1:p.Ile313Val | |
| NM_001303250.3:c.907A>G | NP_001290179.1:p.Ile303Val | |
| NR_138151.2:n.1419A>G |