Linked Data
ClinVar Variation Id:
1636109
ClinVar RCV Id:
RCV002126012
dbSNP Id:
rs773443762
ExAC:
1:171621132 C / T
gnomAD v2:
1-171621132-C-T
gnomAD v4:
1-171651992-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171651992C>T , CM000663.2:g.171651992C>T | GRCh38 |
| NC_000001.10:g.171621132C>T , CM000663.1:g.171621132C>T | GRCh37 |
| NC_000001.9:g.169887755C>T | NCBI36 |
| NG_008859.1:g.5642G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.604+16G>A MANE Select | ENSP00000037502.5:n.604+16G>A | |
| ENST00000638471.1:c.130+490G>A | ENSP00000491206.1:n.130+490G>A | |
| ENST00000037502.10:c.604+16G>A | ENSP00000037502.5:n.604+16G>A | |
| ENST00000614688.1:c.604+16G>A | ENSP00000478680.1:n.604+16G>A | |
| NM_000261.1:c.604+16G>A | NP_000252.1:n.604+16G>A | |
| NM_000261.2:c.604+16G>A MANE Select | NP_000252.1:n.604+16G>A |