Linked Data
ClinVar Variation Id:
505426
ClinVar RCV Id:
RCV000605213
dbSNP Id:
rs201371081
gnomAD v2:
11-17634164-C-G
gnomAD v4:
11-17612617-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17612617C>G , CM000673.2:g.17612617C>G | GRCh38 |
| NC_000011.9:g.17634164C>G , CM000673.1:g.17634164C>G | GRCh37 |
| NC_000011.8:g.17590740C>G | NCBI36 |
| NG_033191.1:g.70245C>G | |
| NG_033191.2:g.70245C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.6329-3C>G | ENSP00000382323.2:n.6329-3C>G | |
| ENST00000399397.6:c.6293-3C>G MANE Select | ENSP00000382329.2:n.6293-3C>G | |
| ENST00000342528.2:c.3347-3C>G | ENSP00000341666.2:n.3347-3C>G | |
| ENST00000399391.6:c.6329-3C>G | ENSP00000382323.2:n.6329-3C>G | |
| ENST00000399397.5:c.6293-3C>G | ENSP00000382329.2:n.6293-3C>G | |
| NM_001277269.1:c.6329-3C>G | NP_001264198.1:n.6329-3C>G | |
| NM_001292063.1:c.6293-3C>G | NP_001278992.1:n.6293-3C>G | |
| NM_001277269.2:c.6329-3C>G | NP_001264198.1:n.6329-3C>G | |
| NM_001292063.2:c.6293-3C>G MANE Select | NP_001278992.1:n.6293-3C>G |