Linked Data
ClinVar Variation Id:
785403
ClinVar RCV Id:
RCV000967264
dbSNP Id:
rs80097705
ExAC:
12:48134768 A / T
gnomAD v2:
12-48134768-A-T
gnomAD v3:
12-47740985-A-T
gnomAD v4:
12-47740985-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47740985A>T , CM000674.2:g.47740985A>T | GRCh38 |
| NC_000012.11:g.48134768A>T , CM000674.1:g.48134768A>T | GRCh37 |
| NC_000012.10:g.46421035A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449771.7:c.1979T>A MANE Select | ENSP00000395708.2:p.Leu660Gln | |
| ENST00000389212.7:c.1979T>A | ENSP00000373864.3:p.Leu660Gln | |
| ENST00000395360.6:n.1221T>A | ||
| ENST00000405493.6:c.1853T>A | ENSP00000384521.2:p.Leu618Gln | |
| ENST00000449771.6:c.1979T>A | ENSP00000395708.2:p.Leu660Gln | |
| ENST00000473777.5:n.450T>A | ||
| ENST00000479866.5:n.2995T>A | ||
| ENST00000482843.5:n.2473T>A | ||
| ENST00000488250.5:n.844T>A | ||
| ENST00000547856.5:c.*1287T>A | ENSP00000449905.1:n.*1287T>A | |
| ENST00000548434.1:c.154T>A | ||
| ENST00000548919.5:c.1706T>A | ENSP00000448480.1:p.Leu569Gln | |
| ENST00000549151.5:c.1853T>A | ENSP00000448619.1:p.Leu618Gln | |
| NM_001098531.2:c.1979T>A | NP_001092001.1:p.Leu660Gln | |
| NM_001098532.2:c.1853T>A | NP_001092002.1:p.Leu618Gln | |
| NM_006105.5:c.1853T>A | NP_006096.2:p.Leu618Gln | |
| XM_005268571.2:c.695T>A | XP_005268628.1:p.Leu232Gln | |
| XM_011537751.1:c.2060T>A | XP_011536053.1:p.Leu687Gln | |
| XM_011537752.1:c.2024T>A | XP_011536054.1:p.Leu675Gln | |
| XM_011537753.1:c.2015T>A | XP_011536055.1:p.Leu672Gln | |
| XM_011537754.1:c.1913T>A | XP_011536056.1:p.Leu638Gln | |
| XM_011537755.1:c.1898T>A | XP_011536057.1:p.Leu633Gln | |
| XM_011537756.1:c.1868T>A | XP_011536058.1:p.Leu623Gln | |
| XM_011537757.1:c.2060T>A | XP_011536059.1:p.Leu687Gln | |
| XM_011537758.1:c.1547T>A | XP_011536060.1:p.Leu516Gln | |
| XR_944480.1:n.2163T>A | ||
| XM_005268571.3:c.695T>A | XP_005268628.1:p.Leu232Gln | |
| XM_011537752.2:c.2024T>A | XP_011536054.1:p.Leu675Gln | |
| XM_011537758.2:c.1547T>A | XP_011536060.1:p.Leu516Gln | |
| XM_024448795.1:c.695T>A | XP_024304563.1:p.Leu232Gln | |
| XR_001748550.2:n.2348T>A | ||
| XR_001748551.2:n.2314T>A | ||
| XR_002957282.1:n.2293T>A | ||
| NM_001098531.3:c.1979T>A | NP_001092001.1:p.Leu660Gln | |
| NM_001098531.4:c.1979T>A MANE Select | NP_001092001.2:p.Leu660Gln |