Linked Data
ClinVar Variation Id:
298026
ClinVar RCV Id:
RCV000387430
dbSNP Id:
rs767468686
gnomAD v2:
1-70876948-T-C
gnomAD v3:
1-70411265-T-C
gnomAD v4:
1-70411265-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.70411265T>C , CM000663.2:g.70411265T>C | GRCh38 |
| NC_000001.10:g.70876948T>C , CM000663.1:g.70876948T>C | GRCh37 |
| NC_000001.9:g.70649536T>C | NCBI36 |
| NG_008041.1:g.4994T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411986.6:c.-151T>C | ENSP00000413407.2:n.-151T>C | |
| NM_001190463.1:c.-151T>C | NP_001177392.1:n.-151T>C | |
| NM_001902.5:c.-151T>C | NP_001893.2:n.-151T>C | |
| NM_153742.4:c.-151T>C | NP_714964.2:n.-151T>C |