Linked Data
ClinVar Variation Id:
353042
ClinVar RCV Id:
RCV000408259
dbSNP Id:
rs371733200
gnomAD v2:
5-178538270-T-C
gnomAD v3:
5-179111269-T-C
gnomAD v4:
5-179111269-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179111269T>C , CM000667.2:g.179111269T>C | GRCh38 |
| NC_000005.9:g.178538270T>C , CM000667.1:g.178538270T>C | GRCh37 |
| NC_000005.8:g.178470876T>C | NCBI36 |
| NG_023212.2:g.239060A>G | |
| NG_023212.3:g.239060A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251582.12:c.*2598A>G MANE Select | ENSP00000251582.7:n.*2598A>G | |
| ENST00000251582.11:c.*2598A>G | ENSP00000251582.7:n.*2598A>G | |
| NM_014244.4:c.*2598A>G | NP_055059.2:n.*2598A>G | |
| NM_014244.5:c.*2598A>G MANE Select | NP_055059.2:n.*2598A>G |