Linked Data
ClinVar Variation Id:
360091
ClinVar RCV Id:
RCV000281078
dbSNP Id:
rs886062292
gnomAD v2:
7-33944737-G-A
gnomAD v3:
7-33905125-G-A
gnomAD v4:
7-33905125-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33905125G>A , CM000669.2:g.33905125G>A | GRCh38 |
| NC_000007.13:g.33944737G>A , CM000669.1:g.33944737G>A | GRCh37 |
| NC_000007.12:g.33911262G>A | NCBI36 |
| NG_031933.1:g.5215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436222.6:n.235+583G>A | ||
| ENST00000297161.6:c.-160G>A | ENSP00000297161.2:n.-160G>A | |
| ENST00000448280.5:c.-160G>A | ENSP00000398835.1:n.-160G>A | |
| NM_133468.4:c.-160G>A | NP_597725.1:n.-160G>A | |
| NM_133468.5:c.-160G>A | NP_597725.1:n.-160G>A |