Linked Data
ClinVar Variation Id:
2663329
ClinVar RCV Id:
RCV003442517
dbSNP Id:
rs748424524
gnomAD v2:
11-124742440-T-G
gnomAD v3:
11-124872544-T-G
gnomAD v4:
11-124872544-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124872544T>G , CM000673.2:g.124872544T>G | GRCh38 |
| NC_000011.9:g.124742440T>G , CM000673.1:g.124742440T>G | GRCh37 |
| NC_000011.8:g.124247650T>G | NCBI36 |
| NG_016214.1:g.12136T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.1322T>G MANE Select | ENSP00000380903.1:p.Ile441Arg | |
| ENST00000397801.5:c.1322T>G | ENSP00000380903.1:p.Ile441Arg | |
| ENST00000538940.5:c.1256T>G | ENSP00000441797.1:p.Ile419Arg | |
| NM_022370.3:c.1322T>G | NP_071765.2:p.Ile441Arg | |
| XM_011542953.1:c.2294T>G | XP_011541255.1:p.Ile765Arg | |
| XM_017018122.1:c.1256T>G | XP_016873611.1:p.Ile419Arg | |
| NM_022370.4:c.1322T>G MANE Select | NP_071765.2:p.Ile441Arg |