Linked Data
ClinVar Variation Id:
327527
dbSNP Id:
rs3744892
gnomAD v2:
18-56935945-G-A
gnomAD v3:
18-59268713-G-A
gnomAD v4:
18-59268713-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59268713G>A , CM000680.2:g.59268713G>A | GRCh38 |
| NC_000018.9:g.56935945G>A , CM000680.1:g.56935945G>A | GRCh37 |
| NC_000018.8:g.55086925G>A | NCBI36 |
| NG_013031.1:g.9681C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334889.4:c.*291C>T MANE Select | ENSP00000334813.3:n.*291C>T | |
| ENST00000256852.7:c.*763C>T | ENSP00000256852.7:n.*763C>T | |
| ENST00000334889.3:c.*291C>T | ENSP00000334813.3:n.*291C>T | |
| NM_013435.2:c.*291C>T | NP_038463.2:n.*291C>T | |
| NM_013435.3:c.*291C>T MANE Select | NP_038463.2:n.*291C>T |