Linked Data
ClinVar Variation Id:
316081
dbSNP Id:
rs185665930
ExAC:
15:44864940 A / G
gnomAD v2:
15-44864940-A-G
gnomAD v3:
15-44572742-A-G
gnomAD v4:
15-44572742-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44572742A>G , CM000677.2:g.44572742A>G | GRCh38 |
| NC_000015.9:g.44864940A>G , CM000677.1:g.44864940A>G | GRCh37 |
| NC_000015.8:g.42652232A>G | NCBI36 |
| NG_008885.1:g.95937T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.83T>C | ENSP00000453314.2:p.Leu28Ser | |
| ENST00000559511.6:c.5867-2084T>C | ENSP00000453246.2:n.5867-2084T>C | |
| ENST00000682065.1:c.6140T>C | ENSP00000507025.1:p.Leu2047Ser | |
| ENST00000682460.1:c.*2541T>C | ENSP00000508334.1:n.*2541T>C | |
| ENST00000682495.1:c.*2776T>C | ENSP00000507166.1:n.*2776T>C | |
| ENST00000682669.1:c.6083T>C | ENSP00000507782.1:p.Leu2028Ser | |
| ENST00000683186.1:c.*3047T>C | ENSP00000507268.1:n.*3047T>C | |
| ENST00000683496.1:c.6007-2090T>C | ENSP00000506968.1:n.6007-2090T>C | |
| ENST00000683734.1:c.*234T>C | ENSP00000508319.1:n.*234T>C | |
| ENST00000683753.1:n.5330T>C | ||
| ENST00000684038.1:c.*2704T>C | ENSP00000507141.1:n.*2704T>C | |
| ENST00000684235.1:c.6284T>C | ENSP00000508295.1:p.Leu2095Ser | |
| ENST00000261866.12:c.6284T>C MANE Select | ENSP00000261866.7:p.Leu2095Ser | |
| ENST00000261866.11:c.6284T>C | ENSP00000261866.7:p.Leu2095Ser | |
| ENST00000427534.6:c.6284T>C | ENSP00000396110.2:p.Leu2095Ser | |
| ENST00000535302.6:c.5945T>C | ENSP00000445278.2:p.Leu1982Ser | |
| ENST00000558138.1:c.83T>C | ENSP00000453314.1:p.Leu28Ser | |
| ENST00000559511.5:c.715-2084T>C | ||
| ENST00000559933.1:n.353T>C | ||
| ENST00000561268.5:n.216T>C | ||
| NM_001160227.1:c.5945T>C | NP_001153699.1:p.Leu1982Ser | |
| NM_025137.3:c.6284T>C | NP_079413.3:p.Leu2095Ser | |
| XM_005254695.3:c.6026T>C | XP_005254752.1:p.Leu2009Ser | |
| XM_006720700.1:c.6140T>C | XP_006720763.1:p.Leu2047Ser | |
| XM_017022634.1:c.6284T>C | XP_016878123.1:p.Leu2095Ser | |
| XM_017022636.1:c.3161T>C | XP_016878125.1:p.Leu1054Ser | |
| NM_025137.4:c.6284T>C MANE Select | NP_079413.3:p.Leu2095Ser | |
| NM_001160227.2:c.5945T>C | NP_001153699.1:p.Leu1982Ser |