Linked Data
ClinVar Variation Id:
423788
dbSNP Id:
rs555842031
ExAC:
16:68867382 G / A
gnomAD v2:
16-68867382-G-A
gnomAD v3:
16-68833479-G-A
gnomAD v4:
16-68833479-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68833479G>A , CM000678.2:g.68833479G>A | GRCh38 |
| NC_000016.9:g.68867382G>A , CM000678.1:g.68867382G>A | GRCh37 |
| NC_000016.8:g.67424883G>A | NCBI36 |
| NG_008021.1:g.101188G>A , LRG_301:g.101188G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2629G>A MANE Select | ENSP00000261769.4:p.Gly877Arg | |
| ENST00000261769.9:c.2629G>A | ENSP00000261769.4:p.Gly877Arg | |
| ENST00000422392.6:c.2446G>A | ENSP00000414946.2:p.Gly816Arg | |
| ENST00000562118.1:n.847G>A | ||
| ENST00000562836.5:n.2700G>A | ||
| ENST00000566510.5:c.*1295G>A | ENSP00000458139.1:n.*1295G>A | |
| ENST00000566612.5:c.*869G>A | ENSP00000454782.1:n.*869G>A | |
| ENST00000611625.4:c.2692G>A | ENSP00000481063.1:p.Gly898Arg | |
| ENST00000612417.4:c.1854-712G>A | ENSP00000478360.1:n.1854-712G>A | |
| ENST00000621016.4:c.1866-724G>A | ENSP00000480664.1:n.1866-724G>A | |
| NM_004360.3:c.2629G>A , LRG_301t1:c.2629G>A | NP_004351.1:p.Gly877Arg | |
| XM_011523488.1:c.1894G>A | XP_011521790.1:p.Gly632Arg | |
| XM_011523489.1:c.1894G>A | XP_011521791.1:p.Gly632Arg | |
| NM_001317184.1:c.2446G>A | NP_001304113.1:p.Gly816Arg | |
| NM_001317185.1:c.1081G>A | NP_001304114.1:p.Gly361Arg | |
| NM_001317186.1:c.664G>A | NP_001304115.1:p.Gly222Arg | |
| NM_004360.4:c.2629G>A | NP_004351.1:p.Gly877Arg | |
| NM_004360.5:c.2629G>A MANE Select | NP_004351.1:p.Gly877Arg | |
| NM_001317184.2:c.2446G>A | NP_001304113.1:p.Gly816Arg | |
| NM_001317185.2:c.1081G>A | NP_001304114.1:p.Gly361Arg | |
| NM_001317186.2:c.664G>A | NP_001304115.1:p.Gly222Arg |