Linked Data
ClinVar Variation Id:
289300
dbSNP Id:
rs570587230
ExAC:
17:18065889 G / A
gnomAD v2:
17-18065889-G-A
gnomAD v3:
17-18162575-G-A
gnomAD v4:
17-18162575-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18162575G>A , CM000679.2:g.18162575G>A | GRCh38 |
| NC_000017.10:g.18065889G>A , CM000679.1:g.18065889G>A | GRCh37 |
| NC_000017.9:g.18006614G>A | NCBI36 |
| NG_011634.1:g.58870G>A | |
| NG_011634.2:g.58870G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642418.1:n.1782-10G>A | ||
| ENST00000643693.1:n.1320-10G>A | ||
| ENST00000644795.1:c.1310-10G>A | ENSP00000495720.1:n.1310-10G>A | |
| ENST00000646782.1:n.2252-10G>A | ||
| ENST00000647165.2:c.9518-10G>A MANE Select | ENSP00000495481.1:n.9518-10G>A | |
| ENST00000651214.1:n.1949-10G>A | ||
| ENST00000205890.9:c.9518-10G>A | ENSP00000205890.5:n.9518-10G>A | |
| ENST00000418233.7:c.1310-10G>A | ENSP00000408800.3:n.1310-10G>A | |
| ENST00000433411.7:n.968-10G>A | ||
| ENST00000445289.6:n.448-10G>A | ||
| ENST00000473013.1:n.702-10G>A | ||
| ENST00000556535.5:c.380-10G>A | ENSP00000451782.1:n.380-10G>A | |
| ENST00000557190.5:n.346-10G>A | ||
| ENST00000557655.5:c.*198-10G>A | ENSP00000451925.1:n.*198-10G>A | |
| ENST00000578575.1:c.81-10G>A | ||
| ENST00000579848.6:c.233-10G>A | ENSP00000465910.1:n.233-10G>A | |
| ENST00000615845.4:c.9518-10G>A | ENSP00000481642.1:n.9518-10G>A | |
| NM_016239.3:c.9518-10G>A | NP_057323.3:n.9518-10G>A | |
| XM_011523921.1:c.9512-10G>A | XP_011522223.1:n.9512-10G>A | |
| XM_017024714.2:c.9458-10G>A | XP_016880203.1:n.9458-10G>A | |
| XM_017024715.2:c.9521-10G>A | XP_016880204.1:n.9521-10G>A | |
| NM_016239.4:c.9518-10G>A MANE Select | NP_057323.3:n.9518-10G>A |