Linked Data
ClinVar Variation Id:
2183533
ClinVar RCV Id:
RCV002627780
dbSNP Id:
rs772201610
ExAC:
5:178556921 G / C
gnomAD v2:
5-178556921-G-C
gnomAD v3:
5-179129920-G-C
gnomAD v4:
5-179129920-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179129920G>C , CM000667.2:g.179129920G>C | GRCh38 |
| NC_000005.9:g.178556921G>C , CM000667.1:g.178556921G>C | GRCh37 |
| NC_000005.8:g.178489527G>C | NCBI36 |
| NG_023212.2:g.220409C>G | |
| NG_023212.3:g.220409C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698889.1:c.2457+12C>G | ENSP00000514008.1:n.2457+12C>G | |
| ENST00000251582.12:c.2457+12C>G MANE Select | ENSP00000251582.7:n.2457+12C>G | |
| ENST00000518335.3:c.2457+12C>G | ENSP00000489888.2:n.2457+12C>G | |
| ENST00000251582.11:c.2457+12C>G | ENSP00000251582.7:n.2457+12C>G | |
| NM_014244.4:c.2457+12C>G | NP_055059.2:n.2457+12C>G | |
| NM_014244.5:c.2457+12C>G MANE Select | NP_055059.2:n.2457+12C>G |