Linked Data
ClinVar Variation Id:
1292008
ClinVar RCV Id:
RCV001717970
dbSNP Id:
rs35602052
gnomAD v2:
8-38003733-G-T
gnomAD v3:
8-38146215-G-T
gnomAD v4:
8-38146215-G-T
COSMIC:
COSN168312
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146215G>T , CM000670.2:g.38146215G>T | GRCh38 |
| NC_000008.10:g.38003733G>T , CM000670.1:g.38003733G>T | GRCh37 |
| NC_000008.9:g.38122890G>T | NCBI36 |
| NG_011827.1:g.9868C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.466-68C>A MANE Select | ENSP00000276449.3:n.466-68C>A | |
| ENST00000276449.8:c.466-68C>A | ENSP00000276449.3:n.466-68C>A | |
| ENST00000520114.1:n.953-68C>A | ||
| ENST00000522050.1:c.402-68C>A | ||
| NM_000349.2:c.466-68C>A | NP_000340.2:n.466-68C>A | |
| XM_006716392.1:c.466-68C>A | XP_006716455.1:n.466-68C>A | |
| NM_000349.3:c.466-68C>A MANE Select | NP_000340.2:n.466-68C>A |