Linked Data
ClinVar Variation Id:
351569
dbSNP Id:
rs886060092
gnomAD v2:
5-148362106-G-C
gnomAD v3:
5-148982543-G-C
gnomAD v4:
5-148982543-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148982543G>C , CM000667.2:g.148982543G>C | GRCh38 |
| NC_000005.9:g.148362106G>C , CM000667.1:g.148362106G>C | GRCh37 |
| NC_000005.8:g.148342299G>C | NCBI36 |
| NG_007947.2:g.85632C>G , LRG_269:g.85632C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*22168C>G MANE Select | ENSP00000423660.1:n.*22168C>G | |
| ENST00000504690.5:c.*12+21183C>G | ENSP00000425627.1:n.*12+21183C>G | |
| ENST00000510350.1:n.231+24338C>G | ||
| NM_024577.3:c.*22168C>G , LRG_269t1:c.*22168C>G | NP_078853.2:n.*22168C>G | |
| NM_024577.4:c.*22168C>G MANE Select | NP_078853.2:n.*22168C>G |