Linked Data
ClinVar Variation Id:
297674
dbSNP Id:
rs2500341
gnomAD v2:
1-55464790-C-G
gnomAD v3:
1-54999117-C-G
gnomAD v4:
1-54999117-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999117C>G , CM000663.2:g.54999117C>G | GRCh38 |
| NC_000001.10:g.55464790C>G , CM000663.1:g.55464790C>G | GRCh37 |
| NC_000001.9:g.55237378C>G | NCBI36 |
| NG_008965.1:g.5174C>G | |
| NG_008965.2:g.5185C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651561.1:c.-70C>G MANE Select | ENSP00000498282.1:n.-70C>G | |
| ENST00000371265.4:c.-70C>G | ENSP00000360312.4:n.-70C>G | |
| NM_057176.2:c.-70C>G | NP_476517.1:n.-70C>G | |
| NM_057176.3:c.-70C>G MANE Select | NP_476517.1:n.-70C>G |