Linked Data
ClinVar Variation Id:
534908
dbSNP Id:
rs1288255586
gnomAD v3:
15-44563241-A-G
gnomAD v4:
15-44563241-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44563241A>G , CM000677.2:g.44563241A>G | GRCh38 |
| NC_000015.9:g.44855439A>G , CM000677.1:g.44855439A>G | GRCh37 |
| NC_000015.8:g.42642731A>G | NCBI36 |
| NG_008885.1:g.105438T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.903T>C | ENSP00000453314.2:p.Tyr301= | |
| ENST00000559511.6:c.6735T>C | ENSP00000453246.2:p.Tyr2245= | |
| ENST00000682065.1:c.7068T>C | ENSP00000507025.1:p.Tyr2356= | |
| ENST00000682460.1:c.*3469T>C | ENSP00000508334.1:n.*3469T>C | |
| ENST00000682495.1:c.*3704T>C | ENSP00000507166.1:n.*3704T>C | |
| ENST00000682669.1:c.7011T>C | ENSP00000507782.1:p.Tyr2337= | |
| ENST00000683186.1:c.*3975T>C | ENSP00000507268.1:n.*3975T>C | |
| ENST00000683496.1:c.*854T>C | ENSP00000506968.1:n.*854T>C | |
| ENST00000683734.1:c.*1162T>C | ENSP00000508319.1:n.*1162T>C | |
| ENST00000683753.1:n.6258T>C | ||
| ENST00000684038.1:c.*3632T>C | ENSP00000507141.1:n.*3632T>C | |
| ENST00000684235.1:c.7151+1306T>C | ENSP00000508295.1:n.7151+1306T>C | |
| ENST00000261866.12:c.7212T>C MANE Select | ENSP00000261866.7:p.Tyr2404= | |
| ENST00000261866.11:c.7212T>C | ENSP00000261866.7:p.Tyr2404= | |
| ENST00000427534.6:c.6815T>C | ENSP00000396110.2:n.6815T>C | |
| ENST00000535302.6:c.6873T>C | ENSP00000445278.2:p.Tyr2291= | |
| ENST00000559511.5:c.1583T>C | ||
| NM_001160227.1:c.6873T>C | NP_001153699.1:p.Tyr2291= | |
| NM_025137.3:c.7212T>C | NP_079413.3:p.Tyr2404= | |
| XM_005254695.3:c.6954T>C | XP_005254752.1:p.Tyr2318= | |
| XM_006720700.1:c.7068T>C | XP_006720763.1:p.Tyr2356= | |
| XM_017022634.1:c.7104T>C | XP_016878123.1:p.Tyr2368= | |
| XM_017022636.1:c.4089T>C | XP_016878125.1:p.Tyr1363= | |
| NM_025137.4:c.7212T>C MANE Select | NP_079413.3:p.Tyr2404= | |
| NM_001160227.2:c.6873T>C | NP_001153699.1:p.Tyr2291= |