Linked Data
ClinVar Variation Id:
1563334
ClinVar RCV Id:
RCV002207031
dbSNP Id:
rs376261948
gnomAD v2:
12-111350968-G-C
gnomAD v3:
12-110913164-G-C
gnomAD v4:
12-110913164-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913164G>C , CM000674.2:g.110913164G>C | GRCh38 |
| NC_000012.11:g.111350968G>C , CM000674.1:g.111350968G>C | GRCh37 |
| NC_000012.10:g.109835351G>C | NCBI36 |
| NG_007554.1:g.12414C>G , LRG_393:g.12414C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.354-20C>G MANE Select | ENSP00000228841.8:n.354-20C>G | |
| ENST00000663220.1:c.297-20C>G | ENSP00000499568.1:n.297-20C>G | |
| ENST00000228841.12:c.354-20C>G | ENSP00000228841.7:n.354-20C>G | |
| ENST00000548438.1:c.312-20C>G | ENSP00000447154.1:n.312-20C>G | |
| ENST00000549029.1:n.266C>G | ||
| NM_000432.3:c.354-20C>G , LRG_393t1:c.354-20C>G | NP_000423.2:n.354-20C>G | |
| NM_000432.4:c.354-20C>G MANE Select | NP_000423.2:n.354-20C>G |