Linked Data
ClinVar Variation Id:
618489
dbSNP Id:
rs753596825
ExAC:
4:39246104 G / A
gnomAD v2:
4-39246104-G-A
gnomAD v3:
4-39244484-G-A
gnomAD v4:
4-39244484-G-A
COSMIC:
COSM3946335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39244484G>A , CM000666.2:g.39244484G>A | GRCh38 |
| NC_000004.11:g.39246104G>A , CM000666.1:g.39246104G>A | GRCh37 |
| NC_000004.10:g.38922499G>A | NCBI36 |
| NG_031813.1:g.67081G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.2577G>A MANE Select | ENSP00000382717.3:p.Ala859= | |
| ENST00000399820.7:c.2577G>A | ENSP00000382717.3:p.Ala859= | |
| ENST00000506869.5:c.*2158G>A | ENSP00000424319.1:n.*2158G>A | |
| ENST00000512095.5:n.1575G>A | ||
| NM_025132.3:c.2577G>A | NP_079408.3:p.Ala859= | |
| XM_011513724.1:c.2589G>A | XP_011512026.1:p.Ala863= | |
| XM_011513725.1:c.2523G>A | XP_011512027.1:p.Ala841= | |
| XM_011513726.1:c.2109G>A | XP_011512028.1:p.Ala703= | |
| XM_011513727.1:c.2109G>A | XP_011512029.1:p.Ala703= | |
| XM_011513728.1:c.2097G>A | XP_011512030.1:p.Ala699= | |
| XM_011513729.1:c.2589G>A | XP_011512031.1:p.Ala863= | |
| XR_925155.1:n.2653G>A | ||
| NM_001317924.1:c.2097G>A | NP_001304853.1:p.Ala699= | |
| XM_011513725.2:c.2523G>A | XP_011512027.1:p.Ala841= | |
| XM_011513726.3:c.2109G>A | XP_011512028.1:p.Ala703= | |
| XM_017008501.1:c.2097G>A | XP_016863990.1:p.Ala699= | |
| XR_001741306.1:n.2653G>A | ||
| XR_001741307.1:n.2641G>A | ||
| XR_001741308.1:n.2653G>A | ||
| XR_001741309.1:n.2641G>A | ||
| XR_001741310.1:n.2641G>A | ||
| XR_001741311.2:n.2490G>A | ||
| NM_025132.4:c.2577G>A MANE Select | NP_079408.3:p.Ala859= | |
| NM_001317924.2:c.2097G>A | NP_001304853.1:p.Ala699= |