Linked Data
ClinVar Variation Id:
292459
ClinVar RCV Id:
RCV000334290
dbSNP Id:
rs782165709
gnomAD v2:
1-147245430-C-T
gnomAD v3:
1-147773326-C-T
gnomAD v4:
1-147773326-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147773326C>T , CM000663.2:g.147773326C>T | GRCh38 |
| NC_000001.10:g.147245430C>T , CM000663.1:g.147245430C>T | GRCh37 |
| NC_000001.9:g.145712054C>T | NCBI36 |
| NG_009369.2:g.5049G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430508.1:c.-108G>A | ENSP00000407645.1:n.-108G>A | |
| ENST00000621517.1:c.-108G>A | ENSP00000484552.1:n.-108G>A | |
| NM_005266.6:c.-108G>A | NP_005257.2:n.-108G>A | |
| XM_005272951.3:c.-34+7341G>A | XP_005273008.1:n.-34+7341G>A | |
| XM_011509415.1:c.-2253G>A | XP_011507717.1:n.-2253G>A | |
| XR_922078.1:n.434-4235C>T | ||
| XR_922079.1:n.434-4235C>T | ||
| XM_005272951.4:c.-34+7341G>A | XP_005273008.1:n.-34+7341G>A | |
| XM_017001044.1:c.-2094G>A | XP_016856533.1:n.-2094G>A | |
| XR_922079.3:n.744-4235C>T | ||
| NM_005266.7:c.-108G>A | NP_005257.2:n.-108G>A |