Linked Data
ClinVar Variation Id:
378614
ClinVar RCV Id:
RCV000419556
dbSNP Id:
rs369282116
ExAC:
1:43392709 G / A
gnomAD v2:
1-43392709-G-A
gnomAD v3:
1-42927038-G-A
gnomAD v4:
1-42927038-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927038G>A , CM000663.2:g.42927038G>A | GRCh38 |
| NC_000001.10:g.43392709G>A , CM000663.1:g.43392709G>A | GRCh37 |
| NC_000001.9:g.43165296G>A | NCBI36 |
| NG_008232.1:g.37139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.*3C>T MANE Select | ENSP00000416293.2:n.*3C>T | |
| ENST00000674545.1:n.2099C>T | ||
| ENST00000674765.1:c.1030-181C>T | ENSP00000501811.1:n.1030-181C>T | |
| ENST00000675112.1:n.1783C>T | ||
| ENST00000676254.1:n.1931C>T | ||
| ENST00000426263.7:c.*3C>T | ENSP00000416293.2:n.*3C>T | |
| ENST00000475162.3:c.416-60C>T | ||
| ENST00000630287.2:c.*797C>T | ENSP00000486694.1:n.*797C>T | |
| NM_006516.2:c.*3C>T | NP_006507.2:n.*3C>T | |
| NM_006516.3:c.*3C>T | NP_006507.2:n.*3C>T | |
| NM_006516.4:c.*3C>T MANE Select | NP_006507.2:n.*3C>T |