Linked Data
ClinVar Variation Id:
188231
dbSNP Id:
rs140824939
ExAC:
15:44865000 T / C
gnomAD v2:
15-44865000-T-C
gnomAD v3:
15-44572802-T-C
gnomAD v4:
15-44572802-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44572802T>C , CM000677.2:g.44572802T>C | GRCh38 |
| NC_000015.9:g.44865000T>C , CM000677.1:g.44865000T>C | GRCh37 |
| NC_000015.8:g.42652292T>C | NCBI36 |
| NG_008885.1:g.95877A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.23A>G | ENSP00000453314.2:p.Asn8Ser | |
| ENST00000559511.6:c.5867-2144A>G | ENSP00000453246.2:n.5867-2144A>G | |
| ENST00000682065.1:c.6080A>G | ENSP00000507025.1:p.Asn2027Ser | |
| ENST00000682460.1:c.*2481A>G | ENSP00000508334.1:n.*2481A>G | |
| ENST00000682495.1:c.*2716A>G | ENSP00000507166.1:n.*2716A>G | |
| ENST00000682669.1:c.6023A>G | ENSP00000507782.1:p.Asn2008Ser | |
| ENST00000683186.1:c.*2987A>G | ENSP00000507268.1:n.*2987A>G | |
| ENST00000683496.1:c.6006+2100A>G | ENSP00000506968.1:n.6006+2100A>G | |
| ENST00000683734.1:c.*174A>G | ENSP00000508319.1:n.*174A>G | |
| ENST00000683753.1:n.5270A>G | ||
| ENST00000684038.1:c.*2644A>G | ENSP00000507141.1:n.*2644A>G | |
| ENST00000684235.1:c.6224A>G | ENSP00000508295.1:p.Asn2075Ser | |
| ENST00000261866.12:c.6224A>G MANE Select | ENSP00000261866.7:p.Asn2075Ser | |
| ENST00000261866.11:c.6224A>G | ENSP00000261866.7:p.Asn2075Ser | |
| ENST00000427534.6:c.6224A>G | ENSP00000396110.2:p.Asn2075Ser | |
| ENST00000535302.6:c.5885A>G | ENSP00000445278.2:p.Asn1962Ser | |
| ENST00000558138.1:c.23A>G | ENSP00000453314.1:p.Asn8Ser | |
| ENST00000559511.5:c.715-2144A>G | ||
| ENST00000559933.1:n.293A>G | ||
| ENST00000561268.5:n.156A>G | ||
| NM_001160227.1:c.5885A>G | NP_001153699.1:p.Asn1962Ser | |
| NM_025137.3:c.6224A>G | NP_079413.3:p.Asn2075Ser | |
| XM_005254695.3:c.5966A>G | XP_005254752.1:p.Asn1989Ser | |
| XM_006720700.1:c.6080A>G | XP_006720763.1:p.Asn2027Ser | |
| XM_017022634.1:c.6224A>G | XP_016878123.1:p.Asn2075Ser | |
| XM_017022636.1:c.3101A>G | XP_016878125.1:p.Asn1034Ser | |
| NM_025137.4:c.6224A>G MANE Select | NP_079413.3:p.Asn2075Ser | |
| NM_001160227.2:c.5885A>G | NP_001153699.1:p.Asn1962Ser |