Linked Data
dbSNP Id:
rs753011624
ExAC:
4:39246126 C / G
gnomAD v3:
4-39244506-C-G
gnomAD v4:
4-39244506-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39244506C>G , CM000666.2:g.39244506C>G | GRCh38 |
| NC_000004.11:g.39246126C>G , CM000666.1:g.39246126C>G | GRCh37 |
| NC_000004.10:g.38922521C>G | NCBI36 |
| NG_031813.1:g.67103C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.2599C>G MANE Select | ENSP00000382717.3:p.Leu867Val | |
| ENST00000399820.7:c.2599C>G | ENSP00000382717.3:p.Leu867Val | |
| ENST00000506869.5:c.*2180C>G | ENSP00000424319.1:n.*2180C>G | |
| ENST00000512095.5:n.1597C>G | ||
| NM_025132.3:c.2599C>G | NP_079408.3:p.Leu867Val | |
| XM_011513724.1:c.2611C>G | XP_011512026.1:p.Leu871Val | |
| XM_011513725.1:c.2545C>G | XP_011512027.1:p.Leu849Val | |
| XM_011513726.1:c.2131C>G | XP_011512028.1:p.Leu711Val | |
| XM_011513727.1:c.2131C>G | XP_011512029.1:p.Leu711Val | |
| XM_011513728.1:c.2119C>G | XP_011512030.1:p.Leu707Val | |
| XM_011513729.1:c.2611C>G | XP_011512031.1:p.Leu871Val | |
| XR_925155.1:n.2675C>G | ||
| NM_001317924.1:c.2119C>G | NP_001304853.1:p.Leu707Val | |
| XM_011513725.2:c.2545C>G | XP_011512027.1:p.Leu849Val | |
| XM_011513726.3:c.2131C>G | XP_011512028.1:p.Leu711Val | |
| XM_017008501.1:c.2119C>G | XP_016863990.1:p.Leu707Val | |
| XR_001741306.1:n.2675C>G | ||
| XR_001741307.1:n.2663C>G | ||
| XR_001741308.1:n.2675C>G | ||
| XR_001741309.1:n.2663C>G | ||
| XR_001741310.1:n.2663C>G | ||
| XR_001741311.2:n.2512C>G | ||
| NM_025132.4:c.2599C>G MANE Select | NP_079408.3:p.Leu867Val | |
| NM_001317924.2:c.2119C>G | NP_001304853.1:p.Leu707Val |