Linked Data
ClinVar Variation Id:
2724416
ClinVar RCV Id:
RCV003590962
dbSNP Id:
rs755646529
gnomAD v3:
5-45461834-G-C
gnomAD v4:
5-45461834-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45461834G>C , CM000667.2:g.45461834G>C | GRCh38 |
| NC_000005.9:g.45461936G>C , CM000667.1:g.45461936G>C | GRCh37 |
| NC_000005.8:g.45497693G>C | NCBI36 |
| NG_042183.1:g.239285C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.1011+12C>G MANE Select | ENSP00000307342.4:n.1011+12C>G | |
| ENST00000637305.1:n.174+12C>G | ||
| ENST00000673735.1:c.1011+12C>G | ENSP00000501107.1:n.1011+12C>G | |
| ENST00000303230.5:c.1011+12C>G | ENSP00000307342.4:n.1011+12C>G | |
| NM_021072.3:c.1011+12C>G | NP_066550.2:n.1011+12C>G | |
| NM_021072.4:c.1011+12C>G MANE Select | NP_066550.2:n.1011+12C>G |