Linked Data
ClinVar Variation Id:
1096395
ClinVar RCV Id:
RCV001417635
dbSNP Id:
rs781762535
ExAC:
1:16458369 C / T
gnomAD v2:
1-16458369-C-T
gnomAD v3:
1-16131874-C-T
gnomAD v4:
1-16131874-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16131874C>T , CM000663.2:g.16131874C>T | GRCh38 |
| NC_000001.10:g.16458369C>T , CM000663.1:g.16458369C>T | GRCh37 |
| NC_000001.9:g.16330956C>T | NCBI36 |
| NG_021396.1:g.29214G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.2326-4G>A MANE Select | ENSP00000351209.5:n.2326-4G>A | |
| ENST00000358432.7:c.2326-4G>A | ENSP00000351209.5:n.2326-4G>A | |
| NM_004431.3:c.2326-4G>A | NP_004422.2:n.2326-4G>A | |
| NM_001329090.1:c.2164-4G>A | NP_001316019.1:n.2164-4G>A | |
| NM_004431.4:c.2326-4G>A | NP_004422.2:n.2326-4G>A | |
| NM_004431.5:c.2326-4G>A MANE Select | NP_004422.2:n.2326-4G>A | |
| NM_001329090.2:c.2164-4G>A | NP_001316019.1:n.2164-4G>A |