Linked Data
ClinVar Variation Id:
2335697
ClinVar RCV Id:
RCV004173441
dbSNP Id:
rs140874536
ExAC:
22:37581279 T / C
gnomAD v2:
22-37581279-T-C
gnomAD v3:
22-37185239-T-C
gnomAD v4:
22-37185239-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37185239T>C , CM000684.2:g.37185239T>C | GRCh38 |
| NC_000022.10:g.37581279T>C , CM000684.1:g.37581279T>C | GRCh37 |
| NC_000022.9:g.35911225T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337843.7:c.268A>G MANE Select | ENSP00000338812.2:p.Ile90Val | |
| ENST00000337843.6:c.268A>G | ENSP00000338812.2:p.Ile90Val | |
| ENST00000397110.6:c.268A>G | ENSP00000380299.2:p.Ile90Val | |
| ENST00000434784.1:c.268A>G | ENSP00000399243.1:p.Ile90Val | |
| ENST00000470655.5:n.3758A>G | ||
| ENST00000493023.1:n.710A>G | ||
| NM_031910.3:c.268A>G | NP_114116.3:p.Ile90Val | |
| NM_182486.1:c.268A>G | NP_872292.1:p.Ile90Val | |
| XM_006724125.2:c.211A>G | XP_006724188.1:p.Ile71Val | |
| XM_011529857.1:c.211A>G | XP_011528159.1:p.Ile71Val | |
| NM_001365878.1:c.211A>G | NP_001352807.1:p.Ile71Val | |
| XM_011529857.2:c.211A>G | XP_011528159.1:p.Ile71Val | |
| XM_017028569.1:c.268A>G | XP_016884058.1:p.Ile90Val | |
| XM_024452150.1:c.268A>G | XP_024307918.1:p.Ile90Val | |
| XM_024452151.1:c.268A>G | XP_024307919.1:p.Ile90Val | |
| XM_024452152.1:c.268A>G | XP_024307920.1:p.Ile90Val | |
| XM_024452153.1:c.268A>G | XP_024307921.1:p.Ile90Val | |
| XM_024452154.1:c.268A>G | XP_024307922.1:p.Ile90Val | |
| XM_024452155.1:c.211A>G | XP_024307923.1:p.Ile71Val | |
| NM_031910.4:c.268A>G MANE Select | NP_114116.3:p.Ile90Val | |
| NM_182486.2:c.268A>G | NP_872292.1:p.Ile90Val |