Linked Data
ClinVar Variation Id:
297762
ClinVar RCV Id:
RCV000326663
dbSNP Id:
rs886046456
gnomAD v3:
1-58576126-T-G
gnomAD v4:
1-58576126-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58576126T>G , CM000663.2:g.58576126T>G | GRCh38 |
| NC_000001.10:g.59041798T>G , CM000663.1:g.59041798T>G | GRCh37 |
| NC_000001.9:g.58814386T>G | NCBI36 |
| NG_016237.1:g.6369A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.*59A>C MANE Select | ENSP00000360269.2:n.*59A>C | |
| ENST00000371225.3:c.*59A>C | ENSP00000360269.2:n.*59A>C | |
| NM_002353.2:c.*59A>C | NP_002344.2:n.*59A>C | |
| NM_002353.3:c.*59A>C MANE Select | NP_002344.2:n.*59A>C |