Linked Data
ClinVar Variation Id:
2764768
ClinVar RCV Id:
RCV003572670
dbSNP Id:
rs766841412
ExAC:
8:11421559 A / G
gnomAD v2:
8-11421559-A-G
gnomAD v4:
8-11564050-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11564050A>G , CM000670.2:g.11564050A>G | GRCh38 |
| NC_000008.10:g.11421559A>G , CM000670.1:g.11421559A>G | GRCh37 |
| NC_000008.9:g.11458968A>G | NCBI36 |
| NG_023543.1:g.75039A>G | |
| NG_023543.2:g.75039A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.1568A>G | ||
| ENST00000696154.1:c.*778A>G | ENSP00000512445.1:n.*778A>G | |
| ENST00000696155.1:n.344A>G | ||
| ENST00000259089.9:c.1460A>G MANE Select | ENSP00000259089.4:p.Gln487Arg | |
| ENST00000645242.1:c.1247A>G | ENSP00000494690.1:p.Gln416Arg | |
| ENST00000259089.8:c.1460A>G | ENSP00000259089.4:p.Gln487Arg | |
| ENST00000526097.1:n.1400A>G | ||
| ENST00000529894.1:c.1247A>G | ENSP00000433663.1:p.Gln416Arg | |
| NM_001715.2:c.1460A>G | NP_001706.2:p.Gln487Arg | |
| XM_011543824.1:c.1538A>G | XP_011542126.1:p.Gln513Arg | |
| XM_011543825.1:c.1538A>G | XP_011542127.1:p.Gln513Arg | |
| XM_011543826.1:c.1538A>G | XP_011542128.1:p.Gln513Arg | |
| XM_011543827.1:c.1325A>G | XP_011542129.1:p.Gln442Arg | |
| NM_001330465.1:c.1247A>G | NP_001317394.1:p.Gln416Arg | |
| XM_011543825.3:c.1538A>G | XP_011542127.1:p.Gln513Arg | |
| NM_001715.3:c.1460A>G MANE Select | NP_001706.2:p.Gln487Arg | |
| NM_001330465.2:c.1247A>G | NP_001317394.1:p.Gln416Arg |