Linked Data
ClinVar Variation Id:
7689
ClinVar RCV Id:
RCV000008128
dbSNP Id:
rs41525747
gnomAD v2:
2-136608643-G-C
gnomAD v3:
2-135851073-G-C
gnomAD v4:
2-135851073-G-C
PubMed:
PMID:17159977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135851073G>C , CM000664.2:g.135851073G>C | GRCh38 |
| NC_000002.11:g.136608643G>C , CM000664.1:g.136608643G>C | GRCh37 |
| NC_000002.10:g.136325113G>C | NCBI36 |
| NG_008104.2:g.9097C>G , LRG_338:g.9097C>G | |
| NG_008958.1:g.30369C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264156.3:c.1917+329C>G MANE Select | ENSP00000264156.2:n.1917+329C>G | |
| ENST00000264156.2:c.1917+329C>G | ENSP00000264156.2:n.1917+329C>G | |
| ENST00000483902.1:n.544+329C>G | ||
| ENST00000492091.1:n.343+329C>G | ||
| NM_005915.5:c.1917+329C>G | NP_005906.2:n.1917+329C>G | |
| NM_005915.6:c.1917+329C>G MANE Select | NP_005906.2:n.1917+329C>G |