Linked Data
ClinVar Variation Id:
2511383
ClinVar RCV Id:
RCV004282456
dbSNP Id:
rs758519979
ExAC:
2:102029460 T / A
gnomAD v2:
2-102029460-T-A
gnomAD v3:
2-101412998-T-A
gnomAD v4:
2-101412998-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.101412998T>A , CM000664.2:g.101412998T>A | GRCh38 |
| NC_000002.11:g.102029460T>A , CM000664.1:g.102029460T>A | GRCh37 |
| NC_000002.10:g.101395892T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646893.2:c.974A>T | ENSP00000494249.2:p.Gln325Leu | |
| ENST00000428343.6:c.635A>T MANE Select | ENSP00000401536.1:p.Gln212Leu | |
| ENST00000646446.1:c.848A>T | ENSP00000494216.1:p.Gln283Leu | |
| ENST00000646893.1:c.761A>T | ENSP00000494249.1:p.Gln254Leu | |
| ENST00000428343.5:c.635A>T | ENSP00000401536.1:p.Gln212Leu | |
| ENST00000481179.5:c.*351A>T | ENSP00000422968.1:n.*351A>T | |
| NM_001145664.1:c.635A>T | NP_001139136.1:p.Gln212Leu | |
| XM_011511771.1:c.863A>T | XP_011510073.1:p.Gln288Leu | |
| XM_011511772.1:c.848A>T | XP_011510074.1:p.Gln283Leu | |
| XM_011511773.1:c.545A>T | XP_011510075.1:p.Gln182Leu | |
| XM_011511774.1:c.863A>T | XP_011510076.1:p.Gln288Leu | |
| XM_011511775.1:c.863A>T | XP_011510077.1:p.Gln288Leu | |
| XM_011511776.1:c.347A>T | XP_011510078.1:p.Gln116Leu | |
| XM_011511777.1:c.347A>T | XP_011510079.1:p.Gln116Leu | |
| XM_011511778.1:c.347A>T | XP_011510080.1:p.Gln116Leu | |
| XM_011511779.1:c.*48A>T | XP_011510081.1:n.*48A>T | |
| XM_011511771.2:c.863A>T | XP_011510073.1:p.Gln288Leu | |
| XM_011511777.2:c.347A>T | XP_011510079.1:p.Gln116Leu | |
| XM_017004851.1:c.974A>T | XP_016860340.1:p.Gln325Leu | |
| XM_017004852.1:c.761A>T | XP_016860341.1:p.Gln254Leu | |
| XM_017004853.1:c.974A>T | XP_016860342.1:p.Gln325Leu | |
| XM_017004854.1:c.974A>T | XP_016860343.1:p.Gln325Leu | |
| XR_001738924.1:n.918A>T | ||
| NM_001145664.2:c.635A>T MANE Select | NP_001139136.2:p.Gln212Leu | |
| NM_001367508.1:c.122A>T | NP_001354437.1:p.Gln41Leu | |
| NM_001367509.1:c.122A>T | NP_001354438.1:p.Gln41Leu | |
| NM_001367510.1:c.122A>T | NP_001354439.1:p.Gln41Leu |