Linked Data
ClinVar Variation Id:
322179
dbSNP Id:
rs79745502
ExAC:
17:18067137 G / A
gnomAD v2:
17-18067137-G-A
gnomAD v3:
17-18163823-G-A
gnomAD v4:
17-18163823-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18163823G>A , CM000679.2:g.18163823G>A | GRCh38 |
| NC_000017.10:g.18067137G>A , CM000679.1:g.18067137G>A | GRCh37 |
| NC_000017.9:g.18007862G>A | NCBI36 |
| NG_011634.1:g.60118G>A | |
| NG_011634.2:g.60118G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642418.1:n.2036G>A | ||
| ENST00000643693.1:n.1574G>A | ||
| ENST00000644795.1:c.1564G>A | ENSP00000495720.1:p.Val522Ile | |
| ENST00000646782.1:n.2506G>A | ||
| ENST00000647165.2:c.9772G>A MANE Select | ENSP00000495481.1:p.Val3258Ile | |
| ENST00000651214.1:n.2203G>A | ||
| ENST00000205890.9:c.9772G>A | ENSP00000205890.5:p.Val3258Ile | |
| ENST00000418233.7:c.1564G>A | ENSP00000408800.3:p.Val522Ile | |
| ENST00000433411.7:n.1222G>A | ||
| ENST00000445289.6:n.702G>A | ||
| ENST00000473013.1:n.956G>A | ||
| ENST00000578575.1:c.335G>A | ||
| ENST00000579848.6:c.487G>A | ENSP00000465910.1:p.Val163Ile | |
| ENST00000615845.4:c.9772G>A | ENSP00000481642.1:p.Val3258Ile | |
| NM_016239.3:c.9772G>A | NP_057323.3:p.Val3258Ile | |
| XM_011523921.1:c.9766G>A | XP_011522223.1:p.Val3256Ile | |
| XM_017024714.2:c.9712G>A | XP_016880203.1:p.Val3238Ile | |
| XM_017024715.2:c.9775G>A | XP_016880204.1:p.Val3259Ile | |
| NM_016239.4:c.9772G>A MANE Select | NP_057323.3:p.Val3258Ile |