Linked Data
ClinVar Variation Id:
257589
dbSNP Id:
rs5956583
ExAC:
X:123034511 A / C
gnomAD v2:
X-123034511-A-C
gnomAD v3:
X-123900661-A-C
gnomAD v4:
X-123900661-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.123900661A>C , CM000685.2:g.123900661A>C | GRCh38 |
| NC_000023.10:g.123034511A>C , CM000685.1:g.123034511A>C | GRCh37 |
| NC_000023.9:g.122862192A>C | NCBI36 |
| NG_007264.1:g.45464A>C , LRG_19:g.45464A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422098.6:c.1268A>C | ENSP00000405529.2:p.Gln423Pro | |
| ENST00000698505.1:n.713A>C | ||
| ENST00000371199.8:c.1268A>C MANE Select | ENSP00000360242.3:p.Gln423Pro | |
| ENST00000355640.3:c.1268A>C | ENSP00000347858.3:p.Gln423Pro | |
| ENST00000371199.7:c.1268A>C | ENSP00000360242.3:p.Gln423Pro | |
| ENST00000434753.7:c.1268A>C | ENSP00000395230.3:p.Gln423Pro | |
| ENST00000468691.5:n.468A>C | ||
| ENST00000481776.5:n.533A>C | ||
| ENST00000497640.1:n.490A>C | ||
| NM_001167.3:c.1268A>C , LRG_19t1:c.1268A>C | NP_001158.2:p.Gln423Pro | |
| NM_001204401.1:c.1268A>C | NP_001191330.1:p.Gln423Pro | |
| NR_037916.1:n.518A>C | ||
| XM_006724754.2:c.1268A>C | XP_006724817.1:p.Gln423Pro | |
| XM_011531329.1:c.1268A>C | XP_011529631.1:p.Gln423Pro | |
| XM_011531329.2:c.1268A>C | XP_011529631.1:p.Gln423Pro | |
| NM_001167.4:c.1268A>C MANE Select | NP_001158.2:p.Gln423Pro | |
| NM_001204401.2:c.1268A>C | NP_001191330.1:p.Gln423Pro | |
| NM_001378590.1:c.1268A>C | NP_001365519.1:p.Gln423Pro | |
| NM_001378591.1:c.1268A>C | NP_001365520.1:p.Gln423Pro | |
| NM_001378592.1:c.1268A>C | NP_001365521.1:p.Gln423Pro | |
| NR_037916.2:n.632A>C | ||
| NR_165803.1:n.614A>C |