Linked Data
ClinVar Variation Id:
2365069
ClinVar RCV Id:
RCV004204348
dbSNP Id:
rs776613905
ExAC:
15:65347359 T / C
gnomAD v2:
15-65347359-T-C
gnomAD v3:
15-65055021-T-C
gnomAD v4:
15-65055021-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65055021T>C , CM000677.2:g.65055021T>C | GRCh38 |
| NC_000015.9:g.65347359T>C , CM000677.1:g.65347359T>C | GRCh37 |
| NC_000015.8:g.63134412T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220062.9:c.679A>G MANE Select | ENSP00000220062.4:p.Ile227Val | |
| ENST00000220062.8:c.679A>G | ENSP00000220062.4:p.Ile227Val | |
| ENST00000421977.7:c.622A>G | ENSP00000390028.3:p.Ile208Val | |
| ENST00000434605.2:c.646A>G | ENSP00000412787.2:p.Ile216Val | |
| NM_001307930.1:c.622A>G | NP_001294859.1:p.Ile208Val | |
| NM_016563.2:c.679A>G | NP_057647.1:p.Ile227Val | |
| NM_016563.3:c.679A>G | NP_057647.1:p.Ile227Val | |
| XM_005254434.3:c.425+3406A>G | XP_005254491.1:n.425+3406A>G | |
| XM_011521660.1:c.664A>G | XP_011519962.1:p.Ile222Val | |
| XM_011521661.1:c.426-2956A>G | XP_011519963.1:n.426-2956A>G | |
| XM_005254434.4:c.425+3406A>G | XP_005254491.1:n.425+3406A>G | |
| XM_011521660.3:c.664A>G | XP_011519962.1:p.Ile222Val | |
| XM_017022296.1:c.426-2956A>G | XP_016877785.1:n.426-2956A>G | |
| NM_016563.4:c.679A>G MANE Select | NP_057647.1:p.Ile227Val | |
| NM_001307930.2:c.622A>G | NP_001294859.1:p.Ile208Val | |
| NM_001379429.1:c.646A>G | NP_001366358.1:p.Ile216Val |