Linked Data
ClinVar Variation Id:
65844
ClinVar RCV Id:
RCV000056084
dbSNP Id:
rs587778785
gnomAD v2:
2-219679267-G-A
gnomAD v4:
2-218814544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814544G>A , CM000664.2:g.218814544G>A | GRCh38 |
| NC_000002.11:g.219679267G>A , CM000664.1:g.219679267G>A | GRCh37 |
| NC_000002.10:g.219387511G>A | NCBI36 |
| NG_007959.1:g.37796G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1264-1G>A MANE Select | ENSP00000258415.4:n.1264-1G>A | |
| ENST00000258415.8:c.1264-1G>A | ENSP00000258415.4:n.1264-1G>A | |
| ENST00000494263.5:n.1975G>A | ||
| NM_000784.3:c.1264-1G>A | NP_000775.1:n.1264-1G>A | |
| XM_017003488.2:c.844-1G>A | XP_016858977.1:n.844-1G>A | |
| NM_000784.4:c.1264-1G>A MANE Select | NP_000775.1:n.1264-1G>A |