Linked Data
ClinVar Variation Id:
1206717
ClinVar RCV Id:
RCV001574455
dbSNP Id:
rs74068371
gnomAD v2:
1-43395760-G-T
gnomAD v3:
1-42930089-G-T
gnomAD v4:
1-42930089-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930089G>T , CM000663.2:g.42930089G>T | GRCh38 |
| NC_000001.10:g.43395760G>T , CM000663.1:g.43395760G>T | GRCh37 |
| NC_000001.9:g.43168347G>T | NCBI36 |
| NG_008232.1:g.34088C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.517-54C>A MANE Select | ENSP00000416293.2:n.517-54C>A | |
| ENST00000674765.1:c.517-54C>A | ENSP00000501811.1:n.517-54C>A | |
| ENST00000675112.1:n.540-54C>A | ||
| ENST00000676254.1:n.966-54C>A | ||
| ENST00000426263.7:c.517-54C>A | ENSP00000416293.2:n.517-54C>A | |
| ENST00000439722.2:c.396-54C>A | ENSP00000395521.2:n.396-54C>A | |
| ENST00000475162.3:c.415+537C>A | ||
| ENST00000630287.2:c.517-309C>A | ENSP00000486694.1:n.517-309C>A | |
| NM_006516.2:c.517-54C>A | NP_006507.2:n.517-54C>A | |
| NM_006516.3:c.517-54C>A | NP_006507.2:n.517-54C>A | |
| NM_006516.4:c.517-54C>A MANE Select | NP_006507.2:n.517-54C>A |