Linked Data
ClinVar Variation Id:
2103787
ClinVar RCV Id:
RCV003041514
dbSNP Id:
rs1005791056
gnomAD v3:
17-7224143-T-A
gnomAD v4:
17-7224143-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224143T>A , CM000679.2:g.7224143T>A | GRCh38 |
| NC_000017.10:g.7127462T>A , CM000679.1:g.7127462T>A | GRCh37 |
| NC_000017.9:g.7068186T>A | NCBI36 |
| NG_007975.1:g.9310T>A | |
| NG_008391.2:g.908A>T | |
| NG_033038.1:g.15402A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1435-3T>A MANE Select | ENSP00000349297.5:n.1435-3T>A | |
| ENST00000322910.9:c.*1390-3T>A | ENSP00000325395.5:n.*1390-3T>A | |
| ENST00000350303.9:c.1369-3T>A | ENSP00000344152.5:n.1369-3T>A | |
| ENST00000356839.9:c.1435-3T>A | ENSP00000349297.5:n.1435-3T>A | |
| ENST00000542255.6:c.293-3T>A | ||
| ENST00000543245.6:c.1504-3T>A | ENSP00000438689.2:n.1504-3T>A | |
| ENST00000578711.1:n.639T>A | ||
| ENST00000579391.1:n.40T>A | ||
| ENST00000579425.5:n.551-3T>A | ||
| ENST00000579546.1:c.271+74T>A | ||
| ENST00000579894.5:n.219T>A | ||
| ENST00000583074.5:n.153+74T>A | ||
| ENST00000583850.5:n.210-3T>A | ||
| ENST00000583858.5:c.463+74T>A | ||
| ENST00000585203.6:n.626-3T>A | ||
| NM_000018.3:c.1435-3T>A | NP_000009.1:n.1435-3T>A | |
| NM_001033859.2:c.1369-3T>A | NP_001029031.1:n.1369-3T>A | |
| NM_001270447.1:c.1504-3T>A | NP_001257376.1:n.1504-3T>A | |
| NM_001270448.1:c.1207-3T>A | NP_001257377.1:n.1207-3T>A | |
| XM_006721516.2:c.1435-3T>A | XP_006721579.2:n.1435-3T>A | |
| XM_011523829.1:c.1434+74T>A | XP_011522131.1:n.1434+74T>A | |
| XM_011523830.1:c.1434+74T>A | XP_011522132.1:n.1434+74T>A | |
| XR_934021.1:n.1542-3T>A | ||
| XR_934022.1:n.1541+74T>A | ||
| XR_934023.1:n.1541+74T>A | ||
| XM_006721516.3:c.1435-3T>A | XP_006721579.2:n.1435-3T>A | |
| XM_011523829.2:c.1434+74T>A | XP_011522131.1:n.1434+74T>A | |
| XM_011523830.2:c.1434+74T>A | XP_011522132.1:n.1434+74T>A | |
| XM_024450741.1:c.1434+74T>A | XP_024306509.1:n.1434+74T>A | |
| XR_934021.2:n.1494-3T>A | ||
| XR_934022.2:n.1493+74T>A | ||
| XR_934023.2:n.1493+74T>A | ||
| NM_000018.4:c.1435-3T>A MANE Select | NP_000009.1:n.1435-3T>A | |
| NM_001033859.3:c.1369-3T>A | NP_001029031.1:n.1369-3T>A | |
| NM_001270447.2:c.1504-3T>A | NP_001257376.1:n.1504-3T>A | |
| NM_001270448.2:c.1207-3T>A | NP_001257377.1:n.1207-3T>A |