Linked Data
ClinVar Variation Id:
65871
dbSNP Id:
rs587778797
gnomAD v2:
2-219674491-G-A
gnomAD v3:
2-218809768-G-A
gnomAD v4:
2-218809768-G-A
COSMIC:
COSM1249573
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218809768G>A , CM000664.2:g.218809768G>A | GRCh38 |
| NC_000002.11:g.219674491G>A , CM000664.1:g.219674491G>A | GRCh37 |
| NC_000002.10:g.219382735G>A | NCBI36 |
| NG_007959.1:g.33020G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.446+1G>A MANE Select | ENSP00000258415.4:n.446+1G>A | |
| ENST00000258415.8:c.446+1G>A | ENSP00000258415.4:n.446+1G>A | |
| ENST00000411688.1:c.164+1G>A | ENSP00000392671.1:n.164+1G>A | |
| ENST00000445971.1:c.256-2454G>A | ENSP00000404945.1:n.256-2454G>A | |
| ENST00000466602.1:n.265-2454G>A | ||
| ENST00000494263.5:n.880+1G>A | ||
| NM_000784.3:c.446+1G>A | NP_000775.1:n.446+1G>A | |
| XM_017003488.2:c.27-2454G>A | XP_016858977.1:n.27-2454G>A | |
| NM_000784.4:c.446+1G>A MANE Select | NP_000775.1:n.446+1G>A |