Linked Data
ClinVar Variation Id:
3139597
ClinVar RCV Id:
RCV004430421
dbSNP Id:
rs893875448
gnomAD v2:
14-91804482-C-T
gnomAD v3:
14-91338138-C-T
gnomAD v4:
14-91338138-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91338138C>T , CM000676.2:g.91338138C>T | GRCh38 |
| NC_000014.8:g.91804482C>T , CM000676.1:g.91804482C>T | GRCh37 |
| NC_000014.7:g.90874235C>T | NCBI36 |
| NG_033118.1:g.84707G>A | |
| NG_033118.2:g.84707G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.917G>A MANE Select | ENSP00000374507.6:p.Arg306Gln | |
| ENST00000389857.10:c.917G>A | ENSP00000374507.6:p.Arg306Gln | |
| ENST00000554051.1:n.394G>A | ||
| NM_001080414.3:c.917G>A | NP_001073883.2:p.Arg306Gln | |
| XM_005267691.3:c.917G>A | XP_005267748.1:p.Arg306Gln | |
| XM_011536796.1:c.809G>A | XP_011535098.1:p.Arg270Gln | |
| XR_429316.2:n.1045G>A | ||
| XR_943459.1:n.1045G>A | ||
| XM_005267691.5:c.917G>A | XP_005267748.1:p.Arg306Gln | |
| XM_011536796.2:c.809G>A | XP_011535098.1:p.Arg270Gln | |
| XM_017021335.2:c.917G>A | XP_016876824.1:p.Arg306Gln | |
| XM_017021337.2:c.917G>A | XP_016876826.1:p.Arg306Gln | |
| XR_429316.4:n.1043G>A | ||
| NM_001080414.4:c.917G>A MANE Select | NP_001073883.2:p.Arg306Gln |