Linked Data
ClinVar Variation Id:
130364
dbSNP Id:
rs3759873
ExAC:
15:44943797 T / C
gnomAD v2:
15-44943797-T-C
gnomAD v3:
15-44651599-T-C
gnomAD v4:
15-44651599-T-C
PubMed:
PMID:27900367
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44651599T>C , CM000677.2:g.44651599T>C | GRCh38 |
| NC_000015.9:g.44943797T>C , CM000677.1:g.44943797T>C | GRCh37 |
| NC_000015.8:g.42731089T>C | NCBI36 |
| NG_008885.1:g.17080A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.1348A>G | ENSP00000453246.2:p.Ile450Val | |
| ENST00000682065.1:c.1348A>G | ENSP00000507025.1:p.Ile450Val | |
| ENST00000682410.1:n.1377A>G | ||
| ENST00000682460.1:c.1348A>G | ENSP00000508334.1:p.Ile450Val | |
| ENST00000682495.1:c.1348A>G | ENSP00000507166.1:p.Ile450Val | |
| ENST00000682648.1:n.1293A>G | ||
| ENST00000682669.1:c.1348A>G | ENSP00000507782.1:p.Ile450Val | |
| ENST00000682788.1:c.1348A>G | ENSP00000508089.1:p.Ile450Val | |
| ENST00000682877.1:n.1379A>G | ||
| ENST00000682915.1:c.1348A>G | ENSP00000507493.1:p.Ile450Val | |
| ENST00000683121.1:c.1348A>G | ENSP00000507557.1:p.Ile450Val | |
| ENST00000683186.1:c.1348A>G | ENSP00000507268.1:p.Ile450Val | |
| ENST00000683255.1:c.1348A>G | ENSP00000508340.1:p.Ile450Val | |
| ENST00000683496.1:c.1348A>G | ENSP00000506968.1:p.Ile450Val | |
| ENST00000683573.1:c.1348A>G | ENSP00000508031.1:p.Ile450Val | |
| ENST00000683734.1:c.1348A>G | ENSP00000508319.1:p.Ile450Val | |
| ENST00000683753.1:n.472A>G | ||
| ENST00000684038.1:c.1090A>G | ENSP00000507141.1:p.Ile364Val | |
| ENST00000684235.1:c.1348A>G | ENSP00000508295.1:p.Ile450Val | |
| ENST00000684490.1:n.1363A>G | ||
| ENST00000684676.1:c.1348A>G | ENSP00000506948.1:p.Ile450Val | |
| ENST00000261866.12:c.1348A>G MANE Select | ENSP00000261866.7:p.Ile450Val | |
| ENST00000261866.11:c.1348A>G | ENSP00000261866.7:p.Ile450Val | |
| ENST00000427534.6:c.1348A>G | ENSP00000396110.2:p.Ile450Val | |
| ENST00000535302.6:c.1348A>G | ENSP00000445278.2:p.Ile450Val | |
| ENST00000557866.1:c.46A>G | ENSP00000453227.1:p.Ile16Val | |
| ENST00000558319.5:c.1348A>G | ENSP00000453599.1:p.Ile450Val | |
| ENST00000559193.5:c.1348A>G | ENSP00000453848.1:p.Ile450Val | |
| NM_001160227.1:c.1348A>G | NP_001153699.1:p.Ile450Val | |
| NM_025137.3:c.1348A>G | NP_079413.3:p.Ile450Val | |
| XM_005254695.3:c.1090A>G | XP_005254752.1:p.Ile364Val | |
| XM_006720700.1:c.1348A>G | XP_006720763.1:p.Ile450Val | |
| XM_006720701.2:c.1348A>G | XP_006720764.1:p.Ile450Val | |
| XM_011522093.1:c.1348A>G | XP_011520395.1:p.Ile450Val | |
| XR_931917.1:n.1379A>G | ||
| XM_006720701.3:c.1348A>G | XP_006720764.1:p.Ile450Val | |
| XM_017022634.1:c.1348A>G | XP_016878123.1:p.Ile450Val | |
| XM_017022635.2:c.1348A>G | XP_016878124.1:p.Ile450Val | |
| XR_001751402.1:n.1379A>G | ||
| XR_931917.2:n.1379A>G | ||
| NM_025137.4:c.1348A>G MANE Select | NP_079413.3:p.Ile450Val | |
| NM_001160227.2:c.1348A>G | NP_001153699.1:p.Ile450Val |