Linked Data
ClinVar Variation Id:
218824
dbSNP Id:
rs4019784
ExAC:
3:10106408 C / T
gnomAD v2:
3-10106408-C-T
gnomAD v3:
3-10064724-C-T
gnomAD v4:
3-10064724-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10064724C>T , CM000665.2:g.10064724C>T | GRCh38 |
| NC_000003.11:g.10106408C>T , CM000665.1:g.10106408C>T | GRCh37 |
| NC_000003.10:g.10081408C>T | NCBI36 |
| NG_007311.1:g.43296C>T , LRG_306:g.43296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681997.1:n.1106-5C>T | ||
| ENST00000683263.1:n.1021-5C>T | ||
| ENST00000675286.1:c.2022-5C>T MANE Select | ENSP00000502379.1:n.2022-5C>T | |
| ENST00000676013.1:c.1911-5C>T | ENSP00000501999.1:n.1911-5C>T | |
| ENST00000287647.7:c.2022-5C>T | ENSP00000287647.3:n.2022-5C>T | |
| ENST00000383807.5:c.2022-5C>T | ENSP00000373318.1:n.2022-5C>T | |
| ENST00000419585.5:c.2022-5C>T | ENSP00000398754.1:n.2022-5C>T | |
| ENST00000421731.5:c.521-5C>T | ||
| ENST00000470757.5:n.76-5C>T | ||
| ENST00000480909.1:n.32C>T | ||
| NM_001018115.1:c.2022-5C>T , LRG_306t1:c.2022-5C>T | NP_001018125.1:n.2022-5C>T | |
| NM_033084.3:c.2022-5C>T , LRG_306t2:c.2022-5C>T | NP_149075.2:n.2022-5C>T | |
| XM_005264946.2:c.2022-5C>T | XP_005265003.1:n.2022-5C>T | |
| XM_005264947.2:c.27-5C>T | XP_005265004.1:n.27-5C>T | |
| XM_006713021.2:c.2022-5C>T | XP_006713084.1:n.2022-5C>T | |
| XM_006713023.2:c.2022-5C>T | XP_006713086.1:n.2022-5C>T | |
| XM_006713024.2:c.2022-5C>T | XP_006713087.1:n.2022-5C>T | |
| XM_011533479.1:c.2022-5C>T | XP_011531781.1:n.2022-5C>T | |
| XM_011533480.1:c.873-5C>T | XP_011531782.1:n.873-5C>T | |
| XR_940391.1:n.2142-5C>T | ||
| NM_001018115.2:c.2022-5C>T | NP_001018125.1:n.2022-5C>T | |
| NM_001319984.1:c.2022-5C>T | NP_001306913.1:n.2022-5C>T | |
| NM_033084.4:c.2022-5C>T | NP_149075.2:n.2022-5C>T | |
| NM_001018115.3:c.2022-5C>T MANE Select | NP_001018125.1:n.2022-5C>T | |
| NM_001319984.2:c.2022-5C>T | NP_001306913.1:n.2022-5C>T | |
| NM_001374253.1:c.1911-5C>T | NP_001361182.1:n.1911-5C>T | |
| NM_001374254.1:c.2022-5C>T | NP_001361183.1:n.2022-5C>T | |
| NM_033084.6:c.2022-5C>T | NP_149075.2:n.2022-5C>T |