Linked Data
ClinVar Variation Id:
188332
dbSNP Id:
rs139334167
ExAC:
15:44856827 G / A
gnomAD v2:
15-44856827-G-A
gnomAD v3:
15-44564629-G-A
gnomAD v4:
15-44564629-G-A
COSMIC:
COSM3718486
MyVariant Identifiers:
chr15:g.44856827G>A (hg19)
chr15:g.44856827_44856828delinsAA (hg19)
chr15:g.44564629G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44564629G>A , CM000677.2:g.44564629G>A | GRCh38 |
| NC_000015.9:g.44856827G>A , CM000677.1:g.44856827G>A | GRCh37 |
| NC_000015.8:g.42644119G>A | NCBI36 |
| NG_008885.1:g.104050C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558138.2:c.760C>T | ENSP00000453314.2:p.Leu254Phe | |
| ENST00000559511.6:c.6592C>T | ENSP00000453246.2:p.Leu2198Phe | |
| ENST00000682065.1:c.6925C>T | ENSP00000507025.1:p.Leu2309Phe | |
| ENST00000682460.1:c.*3326C>T | ENSP00000508334.1:n.*3326C>T | |
| ENST00000682495.1:c.*3561C>T | ENSP00000507166.1:n.*3561C>T | |
| ENST00000682669.1:c.6868C>T | ENSP00000507782.1:p.Leu2290Phe | |
| ENST00000683186.1:c.*3832C>T | ENSP00000507268.1:n.*3832C>T | |
| ENST00000683496.1:c.*711C>T | ENSP00000506968.1:n.*711C>T | |
| ENST00000683734.1:c.*1019C>T | ENSP00000508319.1:n.*1019C>T | |
| ENST00000683753.1:n.6115C>T | ||
| ENST00000684038.1:c.*3489C>T | ENSP00000507141.1:n.*3489C>T | |
| ENST00000684235.1:c.7069C>T | ENSP00000508295.1:p.Leu2357Phe | |
| ENST00000261866.12:c.7069C>T MANE Select | ENSP00000261866.7:p.Leu2357Phe | |
| ENST00000261866.11:c.7069C>T | ENSP00000261866.7:p.Leu2357Phe | |
| ENST00000427534.6:c.6755-1328C>T | ENSP00000396110.2:n.6755-1328C>T | |
| ENST00000535302.6:c.6730C>T | ENSP00000445278.2:p.Leu2244Phe | |
| ENST00000559511.5:c.1440C>T | ||
| ENST00000560299.1:n.361C>T | ||
| NM_001160227.1:c.6730C>T | NP_001153699.1:p.Leu2244Phe | |
| NM_025137.3:c.7069C>T | NP_079413.3:p.Leu2357Phe | |
| XM_005254695.3:c.6811C>T | XP_005254752.1:p.Leu2271Phe | |
| XM_006720700.1:c.6925C>T | XP_006720763.1:p.Leu2309Phe | |
| XM_017022634.1:c.6961C>T | XP_016878123.1:p.Leu2321Phe | |
| XM_017022636.1:c.3946C>T | XP_016878125.1:p.Leu1316Phe | |
| NM_025137.4:c.7069C>T MANE Select | NP_079413.3:p.Leu2357Phe | |
| NM_001160227.2:c.6730C>T | NP_001153699.1:p.Leu2244Phe |