Linked Data
ClinVar Variation Id:
2808345
ClinVar RCV Id:
RCV003612604
dbSNP Id:
rs752171853
gnomAD v2:
2-219677257-C-A
gnomAD v4:
2-218812534-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812534C>A , CM000664.2:g.218812534C>A | GRCh38 |
| NC_000002.11:g.219677257C>A , CM000664.1:g.219677257C>A | GRCh37 |
| NC_000002.10:g.219385501C>A | NCBI36 |
| NG_007959.1:g.35786C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.647-18C>A MANE Select | ENSP00000258415.4:n.647-18C>A | |
| ENST00000258415.8:c.647-18C>A | ENSP00000258415.4:n.647-18C>A | |
| ENST00000411688.1:c.365-18C>A | ENSP00000392671.1:n.365-18C>A | |
| ENST00000445971.1:c.*108-18C>A | ENSP00000404945.1:n.*108-18C>A | |
| ENST00000466602.1:n.577C>A | ||
| ENST00000494263.5:n.1081-18C>A | ||
| NM_000784.3:c.647-18C>A | NP_000775.1:n.647-18C>A | |
| XM_017003488.2:c.227-18C>A | XP_016858977.1:n.227-18C>A | |
| NM_000784.4:c.647-18C>A MANE Select | NP_000775.1:n.647-18C>A |