Linked Data
ClinVar Variation Id:
408367
ClinVar RCV Id:
RCV000471419
dbSNP Id:
rs1060501948
gnomAD v3:
5-132594941-G-T
gnomAD v4:
5-132594941-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132594941G>T , CM000667.2:g.132594941G>T | GRCh38 |
| NC_000005.9:g.131930633G>T , CM000667.1:g.131930633G>T | GRCh37 |
| NC_000005.8:g.131958532G>T | NCBI36 |
| NG_021151.1:g.43018G>T | |
| NG_021151.2:g.42965G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1866G>T MANE Select | ENSP00000368100.4:p.Leu622Phe | |
| ENST00000638452.2:c.1569G>T | ENSP00000492349.2:p.Leu523Phe | |
| ENST00000638504.1:n.1480-163G>T | ||
| ENST00000638568.2:c.1569G>T | ENSP00000491158.2:p.Leu523Phe | |
| ENST00000639899.1:n.2385G>T | ||
| ENST00000640655.2:c.1569G>T | ENSP00000491596.2:p.Leu523Phe | |
| ENST00000651160.1:c.*16-163G>T | ENSP00000498829.1:n.*16-163G>T | |
| ENST00000651658.1:n.2409G>T | ||
| ENST00000651723.1:c.*1949G>T | ENSP00000498237.1:n.*1949G>T | |
| ENST00000652016.1:c.*89-163G>T | ENSP00000498267.1:n.*89-163G>T | |
| ENST00000652485.1:c.1899G>T | ENSP00000498973.1:p.Leu633Phe | |
| ENST00000378823.7:c.1866G>T | ENSP00000368100.4:p.Leu622Phe | |
| ENST00000423956.5:c.*52G>T | ENSP00000390971.1:n.*52G>T | |
| ENST00000453394.5:c.1683G>T | ENSP00000400049.1:p.Leu561Phe | |
| ENST00000533482.5:c.*1492G>T | ENSP00000431225.1:n.*1492G>T | |
| NM_005732.3:c.1866G>T | NP_005723.2:p.Leu622Phe | |
| NM_005732.4:c.1866G>T MANE Select | NP_005723.2:p.Leu622Phe |