Linked Data
ClinVar Variation Id:
2898328
ClinVar RCV Id:
RCV003726344
dbSNP Id:
rs754552862
ExAC:
14:21861870 G / A
gnomAD v2:
14-21861870-G-A
gnomAD v3:
14-21393711-G-A
gnomAD v4:
14-21393711-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21393711G>A , CM000676.2:g.21393711G>A | GRCh38 |
| NC_000014.8:g.21861870G>A , CM000676.1:g.21861870G>A | GRCh37 |
| NC_000014.7:g.20931710G>A | NCBI36 |
| NG_021249.1:g.48588C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430710.8:c.5247C>T | ENSP00000406288.3:p.His1749= | |
| ENST00000555935.2:c.3784C>T | ||
| ENST00000557364.6:c.6084C>T | ENSP00000451601.1:p.His2028= | |
| ENST00000643469.1:c.6084C>T | ENSP00000495070.1:p.His2028= | |
| ENST00000645206.1:n.5240C>T | ||
| ENST00000645929.1:c.5247C>T | ENSP00000494402.1:p.His1749= | |
| ENST00000646647.2:c.6084C>T MANE Select | ENSP00000495240.1:p.His2028= | |
| ENST00000399982.6:c.6084C>T | ENSP00000382863.2:p.His2028= | |
| ENST00000430710.7:c.5247C>T | ENSP00000406288.3:p.His1749= | |
| ENST00000555301.1:n.878C>T | ||
| ENST00000557364.5:c.6084C>T | ENSP00000451601.1:p.His2028= | |
| NM_001170629.1:c.6084C>T | NP_001164100.1:p.His2028= | |
| NM_020920.3:c.5247C>T | NP_065971.2:p.His1749= | |
| NM_001170629.2:c.6084C>T MANE Select | NP_001164100.1:p.His2028= | |
| NM_020920.4:c.5247C>T | NP_065971.2:p.His1749= |