Linked Data
ClinVar Variation Id:
1702201
ClinVar RCV Id:
RCV002277988
dbSNP Id:
rs2153501731
gnomAD v4:
2-188988071-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188988071C>A , CM000664.2:g.188988071C>A | GRCh38 |
| NC_000002.11:g.189852797C>A , CM000664.1:g.189852797C>A | GRCh37 |
| NC_000002.10:g.189561042C>A | NCBI36 |
| NG_007404.1:g.18699C>A , LRG_3:g.18699C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.529-10C>A | ENSP00000415346.2:n.529-10C>A | |
| ENST00000304636.9:c.529-10C>A MANE Select | ENSP00000304408.4:n.529-10C>A | |
| ENST00000304636.7:c.529-10C>A | ENSP00000304408.3:n.529-10C>A | |
| ENST00000317840.9:c.529-10C>A | ENSP00000315243.6:n.529-10C>A | |
| NM_000090.3:c.529-10C>A , LRG_3t1:c.529-10C>A | NP_000081.1:n.529-10C>A | |
| NM_000090.4:c.529-10C>A MANE Select | NP_000081.2:n.529-10C>A |