Linked Data
ClinVar Variation Id:
216774
dbSNP Id:
rs150571352
ExAC:
15:44856764 A / G
gnomAD v2:
15-44856764-A-G
gnomAD v3:
15-44564566-A-G
gnomAD v4:
15-44564566-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44564566A>G , CM000677.2:g.44564566A>G | GRCh38 |
| NC_000015.9:g.44856764A>G , CM000677.1:g.44856764A>G | GRCh37 |
| NC_000015.8:g.42644056A>G | NCBI36 |
| NG_008885.1:g.104113T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.823T>C | ENSP00000453314.2:p.Phe275Leu | |
| ENST00000559511.6:c.6655T>C | ENSP00000453246.2:p.Phe2219Leu | |
| ENST00000682065.1:c.6988T>C | ENSP00000507025.1:p.Phe2330Leu | |
| ENST00000682460.1:c.*3389T>C | ENSP00000508334.1:n.*3389T>C | |
| ENST00000682495.1:c.*3624T>C | ENSP00000507166.1:n.*3624T>C | |
| ENST00000682669.1:c.6931T>C | ENSP00000507782.1:p.Phe2311Leu | |
| ENST00000683186.1:c.*3895T>C | ENSP00000507268.1:n.*3895T>C | |
| ENST00000683496.1:c.*774T>C | ENSP00000506968.1:n.*774T>C | |
| ENST00000683734.1:c.*1082T>C | ENSP00000508319.1:n.*1082T>C | |
| ENST00000683753.1:n.6178T>C | ||
| ENST00000684038.1:c.*3552T>C | ENSP00000507141.1:n.*3552T>C | |
| ENST00000684235.1:c.7132T>C | ENSP00000508295.1:p.Phe2378Leu | |
| ENST00000261866.12:c.7132T>C MANE Select | ENSP00000261866.7:p.Phe2378Leu | |
| ENST00000261866.11:c.7132T>C | ENSP00000261866.7:p.Phe2378Leu | |
| ENST00000427534.6:c.6755-1265T>C | ENSP00000396110.2:n.6755-1265T>C | |
| ENST00000535302.6:c.6793T>C | ENSP00000445278.2:p.Phe2265Leu | |
| ENST00000559511.5:c.1503T>C | ||
| ENST00000560299.1:n.424T>C | ||
| NM_001160227.1:c.6793T>C | NP_001153699.1:p.Phe2265Leu | |
| NM_025137.3:c.7132T>C | NP_079413.3:p.Phe2378Leu | |
| XM_005254695.3:c.6874T>C | XP_005254752.1:p.Phe2292Leu | |
| XM_006720700.1:c.6988T>C | XP_006720763.1:p.Phe2330Leu | |
| XM_017022634.1:c.7024T>C | XP_016878123.1:p.Phe2342Leu | |
| XM_017022636.1:c.4009T>C | XP_016878125.1:p.Phe1337Leu | |
| NM_025137.4:c.7132T>C MANE Select | NP_079413.3:p.Phe2378Leu | |
| NM_001160227.2:c.6793T>C | NP_001153699.1:p.Phe2265Leu |