Linked Data
ClinVar Variation Id:
462858
ClinVar RCV Id:
RCV000556935
dbSNP Id:
rs759573888
ExAC:
9:6588611 T / A
gnomAD v2:
9-6588611-T-A
gnomAD v3:
9-6588611-T-A
gnomAD v4:
9-6588611-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6588611T>A , CM000671.2:g.6588611T>A | GRCh38 |
| NC_000009.11:g.6588611T>A , CM000671.1:g.6588611T>A | GRCh37 |
| NC_000009.10:g.6578611T>A | NCBI36 |
| NG_016397.1:g.62082A>T , LRG_643:g.62082A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1665+7A>T MANE Select | ENSP00000370737.4:n.1665+7A>T | |
| ENST00000639364.1:n.1365+7A>T | ||
| ENST00000639443.1:n.1233+7A>T | ||
| ENST00000639954.1:n.1373+7A>T | ||
| ENST00000640592.1:n.1548+7A>T | ||
| ENST00000321612.6:c.1665+7A>T | ENSP00000370737.3:n.1665+7A>T | |
| NM_000170.2:c.1665+7A>T , LRG_643t1:c.1665+7A>T | NP_000161.2:n.1665+7A>T | |
| NM_000170.3:c.1665+7A>T MANE Select | NP_000161.2:n.1665+7A>T |