Linked Data
ClinVar Variation Id:
752877
dbSNP Id:
rs763874660
ExAC:
14:21878056 C / T
gnomAD v2:
14-21878056-C-T
gnomAD v3:
14-21409897-C-T
gnomAD v4:
14-21409897-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21409897C>T , CM000676.2:g.21409897C>T | GRCh38 |
| NC_000014.8:g.21878056C>T , CM000676.1:g.21878056C>T | GRCh37 |
| NC_000014.7:g.20947896C>T | NCBI36 |
| NG_021249.1:g.32402G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.1481G>A | ENSP00000406288.3:p.Arg494Gln | |
| ENST00000555962.6:c.-110-6855G>A | ENSP00000495174.1:n.-110-6855G>A | |
| ENST00000557364.6:c.2318G>A | ENSP00000451601.1:p.Arg773Gln | |
| ENST00000643469.1:c.2318G>A | ENSP00000495070.1:p.Arg773Gln | |
| ENST00000645140.1:c.2230G>A | ||
| ENST00000645206.1:n.832G>A | ||
| ENST00000645929.1:c.1481G>A | ENSP00000494402.1:p.Arg494Gln | |
| ENST00000646340.1:c.2324G>A | ENSP00000496730.1:p.Arg775Gln | |
| ENST00000646647.2:c.2318G>A MANE Select | ENSP00000495240.1:p.Arg773Gln | |
| ENST00000399982.6:c.2318G>A | ENSP00000382863.2:p.Arg773Gln | |
| ENST00000430710.7:c.1481G>A | ENSP00000406288.3:p.Arg494Gln | |
| ENST00000554384.1:n.186G>A | ||
| ENST00000555962.5:n.151-6855G>A | ||
| ENST00000557364.5:c.2318G>A | ENSP00000451601.1:p.Arg773Gln | |
| NM_001170629.1:c.2318G>A | NP_001164100.1:p.Arg773Gln | |
| NM_020920.3:c.1481G>A | NP_065971.2:p.Arg494Gln | |
| NM_001170629.2:c.2318G>A MANE Select | NP_001164100.1:p.Arg773Gln | |
| NM_020920.4:c.1481G>A | NP_065971.2:p.Arg494Gln |