Linked Data
ClinVar Variation Id:
446636
dbSNP Id:
rs1553918403
gnomAD v4:
4-39272978-A-C
PubMed:
PMID:29068549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39272978A>C , CM000666.2:g.39272978A>C | GRCh38 |
| NC_000004.11:g.39274598A>C , CM000666.1:g.39274598A>C | GRCh37 |
| NC_000004.10:g.38950993A>C | NCBI36 |
| NG_031813.1:g.95575A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.3484-2A>C MANE Select | ENSP00000382717.3:n.3484-2A>C | |
| ENST00000399820.7:c.3484-2A>C | ENSP00000382717.3:n.3484-2A>C | |
| ENST00000506869.5:c.*3065-2A>C | ENSP00000424319.1:n.*3065-2A>C | |
| ENST00000512095.5:n.2482-2A>C | ||
| ENST00000512534.5:n.49-2A>C | ||
| NM_025132.3:c.3484-2A>C | NP_079408.3:n.3484-2A>C | |
| XM_011513724.1:c.3496-2A>C | XP_011512026.1:n.3496-2A>C | |
| XM_011513725.1:c.3430-2A>C | XP_011512027.1:n.3430-2A>C | |
| XM_011513726.1:c.3016-2A>C | XP_011512028.1:n.3016-2A>C | |
| XM_011513727.1:c.3016-2A>C | XP_011512029.1:n.3016-2A>C | |
| XM_011513728.1:c.3004-2A>C | XP_011512030.1:n.3004-2A>C | |
| XR_925155.1:n.3560-2A>C | ||
| NM_001317924.1:c.3004-2A>C | NP_001304853.1:n.3004-2A>C | |
| XM_011513725.2:c.3430-2A>C | XP_011512027.1:n.3430-2A>C | |
| XM_011513726.3:c.3016-2A>C | XP_011512028.1:n.3016-2A>C | |
| XM_017008501.1:c.3004-2A>C | XP_016863990.1:n.3004-2A>C | |
| XR_001741306.1:n.3560-2A>C | ||
| XR_001741307.1:n.3548-2A>C | ||
| XR_001741308.1:n.3560-2A>C | ||
| XR_001741309.1:n.3548-2A>C | ||
| XR_001741310.1:n.3548-2A>C | ||
| XR_001741311.2:n.3397-2A>C | ||
| NM_025132.4:c.3484-2A>C MANE Select | NP_079408.3:n.3484-2A>C | |
| NM_001317924.2:c.3004-2A>C | NP_001304853.1:n.3004-2A>C |