Linked Data
ClinVar Variation Id:
587911
dbSNP Id:
rs370062980
ExAC:
14:21861823 C / T
gnomAD v2:
14-21861823-C-T
gnomAD v3:
14-21393664-C-T
gnomAD v4:
14-21393664-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21393664C>T , CM000676.2:g.21393664C>T | GRCh38 |
| NC_000014.8:g.21861823C>T , CM000676.1:g.21861823C>T | GRCh37 |
| NC_000014.7:g.20931663C>T | NCBI36 |
| NG_021249.1:g.48635G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.5294G>A | ENSP00000406288.3:p.Arg1765Gln | |
| ENST00000555935.2:c.3831G>A | ||
| ENST00000557364.6:c.6131G>A | ENSP00000451601.1:p.Arg2044Gln | |
| ENST00000643469.1:c.6131G>A | ENSP00000495070.1:p.Arg2044Gln | |
| ENST00000645206.1:n.5287G>A | ||
| ENST00000645929.1:c.5294G>A | ENSP00000494402.1:p.Arg1765Gln | |
| ENST00000646647.2:c.6131G>A MANE Select | ENSP00000495240.1:p.Arg2044Gln | |
| ENST00000399982.6:c.6131G>A | ENSP00000382863.2:p.Arg2044Gln | |
| ENST00000430710.7:c.5294G>A | ENSP00000406288.3:p.Arg1765Gln | |
| ENST00000557364.5:c.6131G>A | ENSP00000451601.1:p.Arg2044Gln | |
| NM_001170629.1:c.6131G>A | NP_001164100.1:p.Arg2044Gln | |
| NM_020920.3:c.5294G>A | NP_065971.2:p.Arg1765Gln | |
| NM_001170629.2:c.6131G>A MANE Select | NP_001164100.1:p.Arg2044Gln | |
| NM_020920.4:c.5294G>A | NP_065971.2:p.Arg1765Gln |