Linked Data
ClinVar Variation Id:
381559
ClinVar RCV Id:
RCV000421802
dbSNP Id:
rs112832879
ExAC:
3:10085167 G / A
gnomAD v2:
3-10085167-G-A
gnomAD v3:
3-10043483-G-A
gnomAD v4:
3-10043483-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10043483G>A , CM000665.2:g.10043483G>A | GRCh38 |
| NC_000003.11:g.10085167G>A , CM000665.1:g.10085167G>A | GRCh37 |
| NC_000003.10:g.10060167G>A | NCBI36 |
| NG_007311.1:g.22055G>A , LRG_306:g.22055G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682647.1:c.*910-1G>A | ENSP00000506736.1:n.*910-1G>A | |
| ENST00000675286.1:c.990-1G>A MANE Select | ENSP00000502379.1:n.990-1G>A | |
| ENST00000676013.1:c.990-1G>A | ENSP00000501999.1:n.990-1G>A | |
| ENST00000287647.7:c.990-1G>A | ENSP00000287647.3:n.990-1G>A | |
| ENST00000383807.5:c.990-1G>A | ENSP00000373318.1:n.990-1G>A | |
| ENST00000419585.5:c.990-1G>A | ENSP00000398754.1:n.990-1G>A | |
| NM_001018115.1:c.990-1G>A , LRG_306t1:c.990-1G>A | NP_001018125.1:n.990-1G>A | |
| NM_033084.3:c.990-1G>A , LRG_306t2:c.990-1G>A | NP_149075.2:n.990-1G>A | |
| XM_005264946.2:c.990-1G>A | XP_005265003.1:n.990-1G>A | |
| XM_006713021.2:c.990-1G>A | XP_006713084.1:n.990-1G>A | |
| XM_006713023.2:c.990-1G>A | XP_006713086.1:n.990-1G>A | |
| XM_006713024.2:c.990-1G>A | XP_006713087.1:n.990-1G>A | |
| XM_011533479.1:c.990-1G>A | XP_011531781.1:n.990-1G>A | |
| XR_940391.1:n.1110-1G>A | ||
| NM_001018115.2:c.990-1G>A | NP_001018125.1:n.990-1G>A | |
| NM_001319984.1:c.990-1G>A | NP_001306913.1:n.990-1G>A | |
| NM_033084.4:c.990-1G>A | NP_149075.2:n.990-1G>A | |
| NM_001018115.3:c.990-1G>A MANE Select | NP_001018125.1:n.990-1G>A | |
| NM_001319984.2:c.990-1G>A | NP_001306913.1:n.990-1G>A | |
| NM_001374253.1:c.990-1G>A | NP_001361182.1:n.990-1G>A | |
| NM_001374254.1:c.990-1G>A | NP_001361183.1:n.990-1G>A | |
| NM_033084.6:c.990-1G>A | NP_149075.2:n.990-1G>A |