Linked Data
ClinVar Variation Id:
292335
dbSNP Id:
rs188523700
ExAC:
1:120300075 C / T
gnomAD v2:
1-120300075-C-T
gnomAD v3:
1-119757452-C-T
gnomAD v4:
1-119757452-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119757452C>T , CM000663.2:g.119757452C>T | GRCh38 |
| NC_000001.10:g.120300075C>T , CM000663.1:g.120300075C>T | GRCh37 |
| NC_000001.9:g.120101598C>T | NCBI36 |
| NG_013348.1:g.16481G>A , LRG_447:g.16481G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.851-14G>A MANE Select | ENSP00000358414.3:n.851-14G>A | |
| ENST00000369406.7:c.851-14G>A | ENSP00000358414.3:n.851-14G>A | |
| ENST00000472375.5:n.298-14G>A | ||
| ENST00000476640.1:n.582-14G>A | ||
| ENST00000544913.2:c.725-14G>A | ENSP00000439495.2:n.725-14G>A | |
| NM_001166107.1:c.725-14G>A , LRG_447t2:c.725-14G>A | NP_001159579.1:n.725-14G>A | |
| NM_005518.3:c.851-14G>A , LRG_447t1:c.851-14G>A | NP_005509.1:n.851-14G>A | |
| XM_011541313.1:c.686-14G>A | XP_011539615.1:n.686-14G>A | |
| XM_011541313.2:c.686-14G>A | XP_011539615.1:n.686-14G>A | |
| NM_005518.4:c.851-14G>A MANE Select | NP_005509.1:n.851-14G>A |