Linked Data
ClinVar Variation Id:
2748525
ClinVar RCV Id:
RCV003497802
dbSNP Id:
rs762107727
ExAC:
17:7128109 A / T
gnomAD v2:
17-7128109-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224790A>T , CM000679.2:g.7224790A>T | GRCh38 |
| NC_000017.10:g.7128109A>T , CM000679.1:g.7128109A>T | GRCh37 |
| NC_000017.9:g.7068833A>T | NCBI36 |
| NG_007975.1:g.9957A>T | |
| NG_008391.2:g.261T>A | |
| NG_033038.1:g.14755T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1752-19A>T MANE Select | ENSP00000349297.5:n.1752-19A>T | |
| ENST00000322910.9:c.*1707-19A>T | ENSP00000325395.5:n.*1707-19A>T | |
| ENST00000350303.9:c.1686-19A>T | ENSP00000344152.5:n.1686-19A>T | |
| ENST00000356839.9:c.1752-19A>T | ENSP00000349297.5:n.1752-19A>T | |
| ENST00000542255.6:c.612A>T | ||
| ENST00000543245.6:c.1821-19A>T | ENSP00000438689.2:n.1821-19A>T | |
| ENST00000578033.1:n.158A>T | ||
| ENST00000578319.5:n.333-19A>T | ||
| ENST00000578711.1:n.1286A>T | ||
| ENST00000578809.5:n.324-19A>T | ||
| ENST00000579425.5:n.868-19A>T | ||
| ENST00000579546.1:c.487-19A>T | ||
| ENST00000583074.5:n.375A>T | ||
| ENST00000583848.5:c.118-19A>T | ENSP00000466487.1:n.118-19A>T | |
| ENST00000583850.5:n.523-19A>T | ||
| ENST00000583858.5:c.683-19A>T | ||
| ENST00000585203.6:n.943-19A>T | ||
| NM_000018.3:c.1752-19A>T | NP_000009.1:n.1752-19A>T | |
| NM_001033859.2:c.1686-19A>T | NP_001029031.1:n.1686-19A>T | |
| NM_001270447.1:c.1821-19A>T | NP_001257376.1:n.1821-19A>T | |
| NM_001270448.1:c.1524-19A>T | NP_001257377.1:n.1524-19A>T | |
| XM_006721516.2:c.1754A>T | XP_006721579.2:p.His585Leu | |
| XM_011523829.1:c.1652A>T | XP_011522131.1:p.His551Leu | |
| XM_011523830.1:c.1650-19A>T | XP_011522132.1:n.1650-19A>T | |
| XR_934021.1:n.1855-19A>T | ||
| XR_934022.1:n.1761-19A>T | ||
| XR_934023.1:n.1763A>T | ||
| XM_006721516.3:c.1754A>T | XP_006721579.2:p.His585Leu | |
| XM_011523829.2:c.1652A>T | XP_011522131.1:p.His551Leu | |
| XM_011523830.2:c.1650-19A>T | XP_011522132.1:n.1650-19A>T | |
| XM_024450741.1:c.1740-19A>T | XP_024306509.1:n.1740-19A>T | |
| XR_934021.2:n.1807-19A>T | ||
| XR_934022.2:n.1713-19A>T | ||
| XR_934023.2:n.1715A>T | ||
| NM_000018.4:c.1752-19A>T MANE Select | NP_000009.1:n.1752-19A>T | |
| NM_001033859.3:c.1686-19A>T | NP_001029031.1:n.1686-19A>T | |
| NM_001270447.2:c.1821-19A>T | NP_001257376.1:n.1821-19A>T | |
| NM_001270448.2:c.1524-19A>T | NP_001257377.1:n.1524-19A>T |