Linked Data
ClinVar Variation Id:
2161559
ClinVar RCV Id:
RCV003078634
dbSNP Id:
rs534248654
ExAC:
15:44865763 T / C
gnomAD v2:
15-44865763-T-C
gnomAD v3:
15-44573565-T-C
gnomAD v4:
15-44573565-T-C
MyVariant Identifiers:
chr15:g.44865763T>C (hg19)
chr15:g.44865763_44865764delinsCA (hg19)
chr15:g.44573565T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44573565T>C , CM000677.2:g.44573565T>C | GRCh38 |
| NC_000015.9:g.44865763T>C , CM000677.1:g.44865763T>C | GRCh37 |
| NC_000015.8:g.42653055T>C | NCBI36 |
| NG_008885.1:g.95114A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5867-2907A>G | ENSP00000453246.2:n.5867-2907A>G | |
| ENST00000561391.2:n.2415A>G | ||
| ENST00000682065.1:c.6043A>G | ENSP00000507025.1:p.Thr2015Ala | |
| ENST00000682460.1:c.*2444A>G | ENSP00000508334.1:n.*2444A>G | |
| ENST00000682495.1:c.*2679A>G | ENSP00000507166.1:n.*2679A>G | |
| ENST00000682669.1:c.5986A>G | ENSP00000507782.1:p.Thr1996Ala | |
| ENST00000683186.1:c.*2950A>G | ENSP00000507268.1:n.*2950A>G | |
| ENST00000683496.1:c.6006+1337A>G | ENSP00000506968.1:n.6006+1337A>G | |
| ENST00000683734.1:c.*137A>G | ENSP00000508319.1:n.*137A>G | |
| ENST00000683753.1:n.5233A>G | ||
| ENST00000684038.1:c.*2607A>G | ENSP00000507141.1:n.*2607A>G | |
| ENST00000684235.1:c.6187A>G | ENSP00000508295.1:p.Thr2063Ala | |
| ENST00000684676.1:c.*336A>G | ENSP00000506948.1:n.*336A>G | |
| ENST00000261866.12:c.6187A>G MANE Select | ENSP00000261866.7:p.Thr2063Ala | |
| ENST00000261866.11:c.6187A>G | ENSP00000261866.7:p.Thr2063Ala | |
| ENST00000427534.6:c.6187A>G | ENSP00000396110.2:p.Thr2063Ala | |
| ENST00000535302.6:c.5867-745A>G | ENSP00000445278.2:n.5867-745A>G | |
| ENST00000558080.1:n.552A>G | ||
| ENST00000558319.5:c.6187A>G | ENSP00000453599.1:p.Thr2063Ala | |
| ENST00000559511.5:c.715-2907A>G | ||
| ENST00000559933.1:n.256A>G | ||
| ENST00000561268.5:n.119A>G | ||
| NM_001160227.1:c.5867-745A>G | NP_001153699.1:n.5867-745A>G | |
| NM_025137.3:c.6187A>G | NP_079413.3:p.Thr2063Ala | |
| XM_005254695.3:c.5929A>G | XP_005254752.1:p.Thr1977Ala | |
| XM_006720700.1:c.6043A>G | XP_006720763.1:p.Thr2015Ala | |
| XM_017022634.1:c.6187A>G | XP_016878123.1:p.Thr2063Ala | |
| XM_017022636.1:c.3064A>G | XP_016878125.1:p.Thr1022Ala | |
| NM_025137.4:c.6187A>G MANE Select | NP_079413.3:p.Thr2063Ala | |
| NM_001160227.2:c.5867-745A>G | NP_001153699.1:n.5867-745A>G |