Linked Data
ClinVar Variation Id:
311478
ClinVar RCV Id:
RCV001711921
dbSNP Id:
rs4770403
gnomAD v2:
13-23755127-G-A
gnomAD v3:
13-23180988-G-A
gnomAD v4:
13-23180988-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23180988G>A , CM000675.2:g.23180988G>A | GRCh38 |
| NC_000013.10:g.23755127G>A , CM000675.1:g.23755127G>A | GRCh37 |
| NC_000013.9:g.22653127G>A | NCBI36 |
| NG_008759.1:g.5068G>A , LRG_207:g.5068G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218867.4:c.-88G>A MANE Select | ENSP00000218867.3:n.-88G>A | |
| ENST00000218867.3:c.-88G>A | ENSP00000218867.3:n.-88G>A | |
| NM_000231.2:c.-88G>A , LRG_207t1:c.-88G>A | NP_000222.1:n.-88G>A | |
| XM_005266505.2:c.-239G>A | XP_005266562.1:n.-239G>A | |
| XM_006719861.2:c.54+20342G>A | XP_006719924.1:n.54+20342G>A | |
| XM_006719861.3:c.54+20342G>A | XP_006719924.1:n.54+20342G>A | |
| XM_024449397.1:c.-152+5G>A | XP_024305165.1:n.-152+5G>A | |
| NM_000231.3:c.-88G>A MANE Select | NP_000222.2:n.-88G>A | |
| NM_001378244.1:c.54+20342G>A | NP_001365173.1:n.54+20342G>A | |
| NM_001378245.1:c.-152+5G>A | NP_001365174.1:n.-152+5G>A | |
| NM_001378246.1:c.-239G>A | NP_001365175.1:n.-239G>A |