Linked Data
ClinVar Variation Id:
775694
dbSNP Id:
rs34109129
ExAC:
1:230824279 G / A
gnomAD v2:
1-230824279-G-A
gnomAD v3:
1-230688533-G-A
gnomAD v4:
1-230688533-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230688533G>A , CM000663.2:g.230688533G>A | GRCh38 |
| NC_000001.10:g.230824279G>A , CM000663.1:g.230824279G>A | GRCh37 |
| NC_000001.9:g.228890902G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366669.9:c.1765G>A MANE Select | ENSP00000355629.4:p.Val589Ile | |
| ENST00000366668.7:c.1762G>A | ENSP00000355628.3:p.Val588Ile | |
| ENST00000366669.8:c.1765G>A | ENSP00000355629.4:p.Val589Ile | |
| ENST00000468893.6:c.*1623G>A | ENSP00000476305.1:n.*1623G>A | |
| ENST00000490900.1:n.544G>A | ||
| ENST00000534989.1:c.1588G>A | ENSP00000440349.1:p.Val530Ile | |
| NM_001145036.1:c.1762G>A | NP_001138508.1:p.Val588Ile | |
| NM_007357.2:c.1765G>A | NP_031383.1:p.Val589Ile | |
| NM_007357.3:c.1765G>A MANE Select | NP_031383.1:p.Val589Ile | |
| NM_001145036.2:c.1762G>A | NP_001138508.1:p.Val588Ile |