Linked Data
ClinVar Variation Id:
316083
ClinVar RCV Id:
RCV000860604
dbSNP Id:
rs548551204
ExAC:
15:44865735 G / C
gnomAD v2:
15-44865735-G-C
gnomAD v3:
15-44573537-G-C
gnomAD v4:
15-44573537-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44573537G>C , CM000677.2:g.44573537G>C | GRCh38 |
| NC_000015.9:g.44865735G>C , CM000677.1:g.44865735G>C | GRCh37 |
| NC_000015.8:g.42653027G>C | NCBI36 |
| NG_008885.1:g.95142C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5867-2879C>G | ENSP00000453246.2:n.5867-2879C>G | |
| ENST00000561391.2:n.2443C>G | ||
| ENST00000682065.1:c.6061+10C>G | ENSP00000507025.1:n.6061+10C>G | |
| ENST00000682460.1:c.*2462+10C>G | ENSP00000508334.1:n.*2462+10C>G | |
| ENST00000682495.1:c.*2697+10C>G | ENSP00000507166.1:n.*2697+10C>G | |
| ENST00000682669.1:c.6004+10C>G | ENSP00000507782.1:n.6004+10C>G | |
| ENST00000683186.1:c.*2968+10C>G | ENSP00000507268.1:n.*2968+10C>G | |
| ENST00000683496.1:c.6006+1365C>G | ENSP00000506968.1:n.6006+1365C>G | |
| ENST00000683734.1:c.*155+10C>G | ENSP00000508319.1:n.*155+10C>G | |
| ENST00000683753.1:n.5251+10C>G | ||
| ENST00000684038.1:c.*2625+10C>G | ENSP00000507141.1:n.*2625+10C>G | |
| ENST00000684235.1:c.6205+10C>G | ENSP00000508295.1:n.6205+10C>G | |
| ENST00000684676.1:c.*364C>G | ENSP00000506948.1:n.*364C>G | |
| ENST00000261866.12:c.6205+10C>G MANE Select | ENSP00000261866.7:n.6205+10C>G | |
| ENST00000261866.11:c.6205+10C>G | ENSP00000261866.7:n.6205+10C>G | |
| ENST00000427534.6:c.6205+10C>G | ENSP00000396110.2:n.6205+10C>G | |
| ENST00000535302.6:c.5867-717C>G | ENSP00000445278.2:n.5867-717C>G | |
| ENST00000558080.1:n.580C>G | ||
| ENST00000558319.5:c.6215C>G | ENSP00000453599.1:p.Pro2072Arg | |
| ENST00000559511.5:c.715-2879C>G | ||
| ENST00000559933.1:n.274+10C>G | ||
| ENST00000561268.5:n.137+10C>G | ||
| NM_001160227.1:c.5867-717C>G | NP_001153699.1:n.5867-717C>G | |
| NM_025137.3:c.6205+10C>G | NP_079413.3:n.6205+10C>G | |
| XM_005254695.3:c.5947+10C>G | XP_005254752.1:n.5947+10C>G | |
| XM_006720700.1:c.6061+10C>G | XP_006720763.1:n.6061+10C>G | |
| XM_017022634.1:c.6205+10C>G | XP_016878123.1:n.6205+10C>G | |
| XM_017022636.1:c.3082+10C>G | XP_016878125.1:n.3082+10C>G | |
| NM_025137.4:c.6205+10C>G MANE Select | NP_079413.3:n.6205+10C>G | |
| NM_001160227.2:c.5867-717C>G | NP_001153699.1:n.5867-717C>G |