Linked Data
ClinVar Variation Id:
342259
dbSNP Id:
rs373232961
ExAC:
3:10085556 T / G
gnomAD v2:
3-10085556-T-G
gnomAD v3:
3-10043872-T-G
gnomAD v4:
3-10043872-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10043872T>G , CM000665.2:g.10043872T>G | GRCh38 |
| NC_000003.11:g.10085556T>G , CM000665.1:g.10085556T>G | GRCh37 |
| NC_000003.10:g.10060556T>G | NCBI36 |
| NG_007311.1:g.22444T>G , LRG_306:g.22444T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682647.1:c.*1054+8T>G | ENSP00000506736.1:n.*1054+8T>G | |
| ENST00000675286.1:c.1134+8T>G MANE Select | ENSP00000502379.1:n.1134+8T>G | |
| ENST00000676013.1:c.1134+8T>G | ENSP00000501999.1:n.1134+8T>G | |
| ENST00000287647.7:c.1134+8T>G | ENSP00000287647.3:n.1134+8T>G | |
| ENST00000383807.5:c.1134+8T>G | ENSP00000373318.1:n.1134+8T>G | |
| ENST00000419585.5:c.1134+8T>G | ENSP00000398754.1:n.1134+8T>G | |
| NM_001018115.1:c.1134+8T>G , LRG_306t1:c.1134+8T>G | NP_001018125.1:n.1134+8T>G | |
| NM_033084.3:c.1134+8T>G , LRG_306t2:c.1134+8T>G | NP_149075.2:n.1134+8T>G | |
| XM_005264946.2:c.1134+8T>G | XP_005265003.1:n.1134+8T>G | |
| XM_006713021.2:c.1134+8T>G | XP_006713084.1:n.1134+8T>G | |
| XM_006713023.2:c.1134+8T>G | XP_006713086.1:n.1134+8T>G | |
| XM_006713024.2:c.1134+8T>G | XP_006713087.1:n.1134+8T>G | |
| XM_011533479.1:c.1134+8T>G | XP_011531781.1:n.1134+8T>G | |
| XR_940391.1:n.1254+8T>G | ||
| NM_001018115.2:c.1134+8T>G | NP_001018125.1:n.1134+8T>G | |
| NM_001319984.1:c.1134+8T>G | NP_001306913.1:n.1134+8T>G | |
| NM_033084.4:c.1134+8T>G | NP_149075.2:n.1134+8T>G | |
| NM_001018115.3:c.1134+8T>G MANE Select | NP_001018125.1:n.1134+8T>G | |
| NM_001319984.2:c.1134+8T>G | NP_001306913.1:n.1134+8T>G | |
| NM_001374253.1:c.1134+8T>G | NP_001361182.1:n.1134+8T>G | |
| NM_001374254.1:c.1134+8T>G | NP_001361183.1:n.1134+8T>G | |
| NM_033084.6:c.1134+8T>G | NP_149075.2:n.1134+8T>G |