Linked Data
ClinVar Variation Id:
316088
dbSNP Id:
rs375403626
ExAC:
15:44876283 T / C
gnomAD v2:
15-44876283-T-C
gnomAD v3:
15-44584085-T-C
gnomAD v4:
15-44584085-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584085T>C , CM000677.2:g.44584085T>C | GRCh38 |
| NC_000015.9:g.44876283T>C , CM000677.1:g.44876283T>C | GRCh37 |
| NC_000015.8:g.42663575T>C | NCBI36 |
| NG_008885.1:g.84594A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5595A>G | ENSP00000453246.2:p.Thr1865= | |
| ENST00000561391.2:n.1823A>G | ||
| ENST00000682065.1:c.5451A>G | ENSP00000507025.1:p.Thr1817= | |
| ENST00000682460.1:c.*1852A>G | ENSP00000508334.1:n.*1852A>G | |
| ENST00000682495.1:c.*2087A>G | ENSP00000507166.1:n.*2087A>G | |
| ENST00000682669.1:c.5394A>G | ENSP00000507782.1:p.Thr1798= | |
| ENST00000683186.1:c.*2358A>G | ENSP00000507268.1:n.*2358A>G | |
| ENST00000683496.1:c.5595A>G | ENSP00000506968.1:p.Thr1865= | |
| ENST00000683734.1:c.5595A>G | ENSP00000508319.1:p.Thr1865= | |
| ENST00000683753.1:n.4641A>G | ||
| ENST00000684038.1:c.*2015A>G | ENSP00000507141.1:n.*2015A>G | |
| ENST00000684235.1:c.5595A>G | ENSP00000508295.1:p.Thr1865= | |
| ENST00000684676.1:c.5515+80A>G | ENSP00000506948.1:n.5515+80A>G | |
| ENST00000261866.12:c.5595A>G MANE Select | ENSP00000261866.7:p.Thr1865= | |
| ENST00000261866.11:c.5595A>G | ENSP00000261866.7:p.Thr1865= | |
| ENST00000427534.6:c.5595A>G | ENSP00000396110.2:p.Thr1865= | |
| ENST00000535302.6:c.5595A>G | ENSP00000445278.2:p.Thr1865= | |
| ENST00000558319.5:c.5595A>G | ENSP00000453599.1:p.Thr1865= | |
| ENST00000559511.5:c.443A>G | ||
| ENST00000559822.1:c.287+80A>G | ||
| NM_001160227.1:c.5595A>G | NP_001153699.1:p.Thr1865= | |
| NM_025137.3:c.5595A>G | NP_079413.3:p.Thr1865= | |
| XM_005254695.3:c.5337A>G | XP_005254752.1:p.Thr1779= | |
| XM_006720700.1:c.5451A>G | XP_006720763.1:p.Thr1817= | |
| XM_017022634.1:c.5595A>G | XP_016878123.1:p.Thr1865= | |
| XM_017022636.1:c.2472A>G | XP_016878125.1:p.Thr824= | |
| NM_025137.4:c.5595A>G MANE Select | NP_079413.3:p.Thr1865= | |
| NM_001160227.2:c.5595A>G | NP_001153699.1:p.Thr1865= |