Linked Data
ClinVar Variation Id:
164570
dbSNP Id:
rs200605472
ExAC:
17:18070953 G / A
gnomAD v2:
17-18070953-G-A
gnomAD v3:
17-18167639-G-A
gnomAD v4:
17-18167639-G-A
ERepo:
CA177281/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18167639G>A , CM000679.2:g.18167639G>A | GRCh38 |
| NC_000017.10:g.18070953G>A , CM000679.1:g.18070953G>A | GRCh37 |
| NC_000017.9:g.18011678G>A | NCBI36 |
| NG_011634.1:g.63934G>A | |
| NG_011634.2:g.63934G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642418.1:n.2262G>A | ||
| ENST00000643693.1:n.1800G>A | ||
| ENST00000644795.1:c.1790G>A | ENSP00000495720.1:p.Arg597Gln | |
| ENST00000646782.1:n.2732G>A | ||
| ENST00000647165.2:c.9998G>A MANE Select | ENSP00000495481.1:p.Arg3333Gln | |
| ENST00000651214.1:n.2429G>A | ||
| ENST00000205890.9:c.9998G>A | ENSP00000205890.5:p.Arg3333Gln | |
| ENST00000418233.7:c.1790G>A | ENSP00000408800.3:p.Arg597Gln | |
| ENST00000433411.7:n.1448G>A | ||
| ENST00000445289.6:n.767G>A | ||
| ENST00000578575.1:c.400G>A | ||
| ENST00000579848.6:c.502+3801G>A | ENSP00000465910.1:n.502+3801G>A | |
| ENST00000615845.4:c.9998G>A | ENSP00000481642.1:p.Arg3333Gln | |
| NM_016239.3:c.9998G>A | NP_057323.3:p.Arg3333Gln | |
| XM_011523921.1:c.9992G>A | XP_011522223.1:p.Arg3331Gln | |
| XM_017024714.2:c.9938G>A | XP_016880203.1:p.Arg3313Gln | |
| XM_017024715.2:c.10001G>A | XP_016880204.1:p.Arg3334Gln | |
| NM_016239.4:c.9998G>A MANE Select | NP_057323.3:p.Arg3333Gln |