Linked Data
ClinVar Variation Id:
2732639
ClinVar RCV Id:
RCV003593258
dbSNP Id:
rs144584870
ExAC:
14:50666520 T / A
gnomAD v2:
14-50666520-T-A
gnomAD v3:
14-50199802-T-A
gnomAD v4:
14-50199802-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50199802T>A , CM000676.2:g.50199802T>A | GRCh38 |
| NC_000014.8:g.50666520T>A , CM000676.1:g.50666520T>A | GRCh37 |
| NC_000014.7:g.49736270T>A | NCBI36 |
| NG_051073.1:g.36892A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.399A>T MANE Select | ENSP00000216373.5:p.Val133= | |
| ENST00000216373.9:c.399A>T | ENSP00000216373.5:p.Val133= | |
| ENST00000543680.5:c.399A>T | ENSP00000445328.1:p.Val133= | |
| ENST00000555666.1:n.578A>T | ||
| ENST00000556469.5:n.370A>T | ||
| NM_006939.2:c.399A>T | NP_008870.2:p.Val133= | |
| XM_005268021.1:c.219A>T | XP_005268078.1:p.Val73= | |
| XM_011537103.1:c.360A>T | XP_011535405.1:p.Val120= | |
| XM_011537104.1:c.399A>T | XP_011535406.1:p.Val133= | |
| XR_943842.1:n.1039+15930T>A | ||
| XR_943843.1:n.1039+15930T>A | ||
| NM_006939.3:c.399A>T | NP_008870.2:p.Val133= | |
| NM_006939.4:c.399A>T MANE Select | NP_008870.2:p.Val133= |