Linked Data
ClinVar Variation Id:
348739
dbSNP Id:
rs886059398
gnomAD v2:
4-39230260-G-A
gnomAD v3:
4-39228640-G-A
gnomAD v4:
4-39228640-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39228640G>A , CM000666.2:g.39228640G>A | GRCh38 |
| NC_000004.11:g.39230260G>A , CM000666.1:g.39230260G>A | GRCh37 |
| NC_000004.10:g.38906655G>A | NCBI36 |
| NG_031813.1:g.51237G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.1932G>A MANE Select | ENSP00000382717.3:p.Thr644= | |
| ENST00000399820.7:c.1932G>A | ENSP00000382717.3:p.Thr644= | |
| ENST00000506869.5:c.*1513G>A | ENSP00000424319.1:n.*1513G>A | |
| ENST00000507228.1:c.110G>A | ||
| ENST00000511729.5:n.123G>A | ||
| ENST00000512095.5:n.930G>A | ||
| ENST00000515631.1:n.86G>A | ||
| NM_025132.3:c.1932G>A | NP_079408.3:p.Thr644= | |
| XM_011513724.1:c.1932G>A | XP_011512026.1:p.Thr644= | |
| XM_011513725.1:c.1866G>A | XP_011512027.1:p.Thr622= | |
| XM_011513726.1:c.1452G>A | XP_011512028.1:p.Thr484= | |
| XM_011513727.1:c.1452G>A | XP_011512029.1:p.Thr484= | |
| XM_011513728.1:c.1452G>A | XP_011512030.1:p.Thr484= | |
| XM_011513729.1:c.1932G>A | XP_011512031.1:p.Thr644= | |
| XR_925155.1:n.1996G>A | ||
| NM_001317924.1:c.1452G>A | NP_001304853.1:p.Thr484= | |
| XM_011513725.2:c.1866G>A | XP_011512027.1:p.Thr622= | |
| XM_011513726.3:c.1452G>A | XP_011512028.1:p.Thr484= | |
| XM_017008501.1:c.1452G>A | XP_016863990.1:p.Thr484= | |
| XR_001741306.1:n.1996G>A | ||
| XR_001741307.1:n.1996G>A | ||
| XR_001741308.1:n.1996G>A | ||
| XR_001741309.1:n.1996G>A | ||
| XR_001741310.1:n.1996G>A | ||
| XR_001741311.2:n.1845G>A | ||
| XR_001741312.1:n.1996G>A | ||
| NM_025132.4:c.1932G>A MANE Select | NP_079408.3:p.Thr644= | |
| NM_001317924.2:c.1452G>A | NP_001304853.1:p.Thr484= |