Linked Data
ClinVar Variation Id:
446642
ClinVar RCV Id:
RCV000515874
dbSNP Id:
rs772599282
ExAC:
4:39246090 C / T
gnomAD v2:
4-39246090-C-T
gnomAD v4:
4-39244470-C-T
PubMed:
PMID:29068549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39244470C>T , CM000666.2:g.39244470C>T | GRCh38 |
| NC_000004.11:g.39246090C>T , CM000666.1:g.39246090C>T | GRCh37 |
| NC_000004.10:g.38922485C>T | NCBI36 |
| NG_031813.1:g.67067C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399820.8:c.2563C>T MANE Select | ENSP00000382717.3:p.Gln855Ter | |
| ENST00000399820.7:c.2563C>T | ENSP00000382717.3:p.Gln855Ter | |
| ENST00000506869.5:c.*2144C>T | ENSP00000424319.1:n.*2144C>T | |
| ENST00000512095.5:n.1561C>T | ||
| NM_025132.3:c.2563C>T | NP_079408.3:p.Gln855Ter | |
| XM_011513724.1:c.2575C>T | XP_011512026.1:p.Gln859Ter | |
| XM_011513725.1:c.2509C>T | XP_011512027.1:p.Gln837Ter | |
| XM_011513726.1:c.2095C>T | XP_011512028.1:p.Gln699Ter | |
| XM_011513727.1:c.2095C>T | XP_011512029.1:p.Gln699Ter | |
| XM_011513728.1:c.2083C>T | XP_011512030.1:p.Gln695Ter | |
| XM_011513729.1:c.2575C>T | XP_011512031.1:p.Gln859Ter | |
| XR_925155.1:n.2639C>T | ||
| NM_001317924.1:c.2083C>T | NP_001304853.1:p.Gln695Ter | |
| XM_011513725.2:c.2509C>T | XP_011512027.1:p.Gln837Ter | |
| XM_011513726.3:c.2095C>T | XP_011512028.1:p.Gln699Ter | |
| XM_017008501.1:c.2083C>T | XP_016863990.1:p.Gln695Ter | |
| XR_001741306.1:n.2639C>T | ||
| XR_001741307.1:n.2627C>T | ||
| XR_001741308.1:n.2639C>T | ||
| XR_001741309.1:n.2627C>T | ||
| XR_001741310.1:n.2627C>T | ||
| XR_001741311.2:n.2476C>T | ||
| NM_025132.4:c.2563C>T MANE Select | NP_079408.3:p.Gln855Ter | |
| NM_001317924.2:c.2083C>T | NP_001304853.1:p.Gln695Ter |