Linked Data
ClinVar Variation Id:
437272
ClinVar RCV Id:
RCV000500098
RCV000951959
RCV001532019
RCV001149215
RCV001149216
RCV004541573
RCV002279282
dbSNP Id:
rs201354264
ExAC:
4:39257474 A / G
gnomAD v2:
4-39257474-A-G
gnomAD v3:
4-39255854-A-G
gnomAD v4:
4-39255854-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39255854A>G , CM000666.2:g.39255854A>G | GRCh38 |
| NC_000004.11:g.39257474A>G , CM000666.1:g.39257474A>G | GRCh37 |
| NC_000004.10:g.38933869A>G | NCBI36 |
| NG_031813.1:g.78451A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.3008A>G MANE Select | ENSP00000382717.3:p.Glu1003Gly | |
| ENST00000399820.7:c.3008A>G | ENSP00000382717.3:p.Glu1003Gly | |
| ENST00000506869.5:c.*2589A>G | ENSP00000424319.1:n.*2589A>G | |
| ENST00000512095.5:n.2006A>G | ||
| NM_025132.3:c.3008A>G | NP_079408.3:p.Glu1003Gly | |
| XM_011513724.1:c.3020A>G | XP_011512026.1:p.Glu1007Gly | |
| XM_011513725.1:c.2954A>G | XP_011512027.1:p.Glu985Gly | |
| XM_011513726.1:c.2540A>G | XP_011512028.1:p.Glu847Gly | |
| XM_011513727.1:c.2540A>G | XP_011512029.1:p.Glu847Gly | |
| XM_011513728.1:c.2528A>G | XP_011512030.1:p.Glu843Gly | |
| XR_925155.1:n.3084A>G | ||
| NM_001317924.1:c.2528A>G | NP_001304853.1:p.Glu843Gly | |
| XM_011513725.2:c.2954A>G | XP_011512027.1:p.Glu985Gly | |
| XM_011513726.3:c.2540A>G | XP_011512028.1:p.Glu847Gly | |
| XM_017008501.1:c.2528A>G | XP_016863990.1:p.Glu843Gly | |
| XR_001741306.1:n.3084A>G | ||
| XR_001741307.1:n.3072A>G | ||
| XR_001741308.1:n.3084A>G | ||
| XR_001741309.1:n.3072A>G | ||
| XR_001741310.1:n.3072A>G | ||
| XR_001741311.2:n.2921A>G | ||
| NM_025132.4:c.3008A>G MANE Select | NP_079408.3:p.Glu1003Gly | |
| NM_001317924.2:c.2528A>G | NP_001304853.1:p.Glu843Gly |