Linked Data
ClinVar Variation Id:
1088475
ClinVar RCV Id:
RCV002553986
dbSNP Id:
rs778359181
ExAC:
1:245027294 G / A
gnomAD v2:
1-245027294-G-A
gnomAD v4:
1-244863992-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863992G>A , CM000663.2:g.244863992G>A | GRCh38 |
| NC_000001.10:g.245027294G>A , CM000663.1:g.245027294G>A | GRCh37 |
| NC_000001.9:g.243093917G>A | NCBI36 |
| NG_042184.1:g.5534C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283179.14:c.316C>T | ENSP00000283179.10:p.Leu106= | |
| ENST00000444376.7:c.316C>T | ENSP00000393151.2:p.Leu106= | |
| ENST00000476241.2:n.501C>T | ||
| ENST00000638475.1:c.100C>T | ENSP00000491305.1:p.Leu34= | |
| ENST00000638952.1:n.547C>T | ||
| ENST00000640218.2:c.316C>T MANE Select | ENSP00000491215.1:p.Leu106= | |
| ENST00000640306.1:c.316C>T | ENSP00000491685.1:p.Leu106= | |
| ENST00000640440.1:c.16C>T | ENSP00000491263.1:p.Leu6= | |
| ENST00000649899.1:n.540C>T | ||
| ENST00000283179.13:c.316C>T | ENSP00000283179.9:p.Leu106= | |
| ENST00000444376.6:c.316C>T | ENSP00000393151.2:p.Leu106= | |
| ENST00000476241.1:n.500C>T | ||
| NM_004501.3:c.316C>T | NP_004492.2:p.Leu106= | |
| NM_031844.2:c.316C>T | NP_114032.2:p.Leu106= | |
| NM_031844.3:c.316C>T MANE Select | NP_114032.2:p.Leu106= |