Linked Data
ClinVar Variation Id:
1464904
ClinVar RCV Id:
RCV001979240
dbSNP Id:
rs753301368
ExAC:
9:6556241 A / T
gnomAD v2:
9-6556241-A-T
gnomAD v3:
9-6556241-A-T
gnomAD v4:
9-6556241-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556241A>T , CM000671.2:g.6556241A>T | GRCh38 |
| NC_000009.11:g.6556241A>T , CM000671.1:g.6556241A>T | GRCh37 |
| NC_000009.10:g.6546241A>T | NCBI36 |
| NG_016397.1:g.94452T>A , LRG_643:g.94452T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2114T>A MANE Select | ENSP00000370737.4:p.Val705Glu | |
| ENST00000638233.1:n.549T>A | ||
| ENST00000638661.1:c.314T>A | ENSP00000491369.1:p.Val105Glu | |
| ENST00000638694.1:n.301T>A | ||
| ENST00000639318.1:c.314T>A | ENSP00000491932.1:p.Val105Glu | |
| ENST00000639364.1:n.1814T>A | ||
| ENST00000639443.1:n.1682T>A | ||
| ENST00000639954.1:n.1822T>A | ||
| ENST00000640505.1:n.353T>A | ||
| ENST00000321612.6:c.2114T>A | ENSP00000370737.3:p.Val705Glu | |
| NM_000170.2:c.2114T>A , LRG_643t1:c.2114T>A | NP_000161.2:p.Val705Glu | |
| NM_000170.3:c.2114T>A MANE Select | NP_000161.2:p.Val705Glu |