Linked Data
ClinVar Variation Id:
297595
ClinVar RCV Id:
RCV000368164
dbSNP Id:
rs548768045
gnomAD v2:
1-53662374-G-A
gnomAD v3:
1-53196702-G-A
gnomAD v4:
1-53196702-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53196702G>A , CM000663.2:g.53196702G>A | GRCh38 |
| NC_000001.10:g.53662374G>A , CM000663.1:g.53662374G>A | GRCh37 |
| NC_000001.9:g.53434962G>A | NCBI36 |
| NG_008035.1:g.5274G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.3:c.-242G>A | ENSP00000360541.3:n.-242G>A | |
| NM_000098.2:c.-242G>A | NP_000089.1:n.-242G>A | |
| NM_001330589.1:c.-242G>A | NP_001317518.1:n.-242G>A |