Linked Data
ClinVar Variation Id:
297252
ClinVar RCV Id:
RCV000324022
dbSNP Id:
rs747705034
gnomAD v2:
1-40563068-G-A
gnomAD v3:
1-40097396-G-A
gnomAD v4:
1-40097396-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097396G>A , CM000663.2:g.40097396G>A | GRCh38 |
| NC_000001.10:g.40563068G>A , CM000663.1:g.40563068G>A | GRCh37 |
| NC_000001.9:g.40335655G>A | NCBI36 |
| NG_009192.1:g.5075C>T , LRG_690:g.5075C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-158C>T | ENSP00000394863.3:n.-158C>T | |
| NM_000310.3:c.-158C>T , LRG_690t1:c.-158C>T | NP_000301.1:n.-158C>T | |
| NM_001142604.1:c.-158C>T | NP_001136076.1:n.-158C>T | |
| NM_001363695.1:c.-158C>T | NP_001350624.1:n.-158C>T |