Linked Data
ClinVar Variation Id:
1547499
ClinVar RCV Id:
RCV002177391
dbSNP Id:
rs745807849
ExAC:
5:177420056 G / T
gnomAD v2:
5-177420056-G-T
gnomAD v3:
5-177993055-G-T
gnomAD v4:
5-177993055-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177993055G>T , CM000667.2:g.177993055G>T | GRCh38 |
| NC_000005.9:g.177420056G>T , CM000667.1:g.177420056G>T | GRCh37 |
| NC_000005.8:g.177352662G>T | NCBI36 |
| NG_015889.1:g.8188C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.343-8C>A MANE Select | ENSP00000311290.2:n.343-8C>A | |
| NM_006261.4:c.343-8C>A | NP_006252.3:n.343-8C>A | |
| NM_006261.5:c.343-8C>A MANE Select | NP_006252.4:n.343-8C>A |