Linked Data
ClinVar Variation Id:
13233
ClinVar RCV Id:
RCV000014138
dbSNP Id:
rs104894487
ExAC:
15:43507389 C / T
gnomAD v2:
15-43507389-C-T
gnomAD v3:
15-43215191-C-T
gnomAD v4:
15-43215191-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43215191C>T , CM000677.2:g.43215191C>T | GRCh38 |
| NC_000015.9:g.43507389C>T , CM000677.1:g.43507389C>T | GRCh37 |
| NC_000015.8:g.41294681C>T | NCBI36 |
| NG_011505.1:g.10935G>A | |
| NG_011505.2:g.15666G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441366.7:c.334G>A MANE Select | ENSP00000396616.2:p.Ala112Thr | |
| ENST00000648595.1:c.424G>A | ENSP00000497777.1:p.Ala142Thr | |
| ENST00000300215.7:c.424G>A | ENSP00000300215.3:p.Ala142Thr | |
| ENST00000441366.6:c.334G>A | ENSP00000396616.2:p.Ala112Thr | |
| ENST00000540029.5:c.196+1077G>A | ENSP00000444699.1:n.196+1077G>A | |
| ENST00000568508.5:c.193G>A | ENSP00000457140.1:p.Ala65Thr | |
| ENST00000622454.4:c.334G>A | ENSP00000481226.1:p.Ala112Thr | |
| NM_000119.2:c.424G>A | NP_000110.2:p.Ala142Thr | |
| NM_001114134.1:c.334G>A | NP_001107606.1:p.Ala112Thr | |
| XM_005254225.1:c.334G>A | XP_005254282.1:p.Ala112Thr | |
| XM_011521349.1:c.424G>A | XP_011519651.1:p.Ala142Thr | |
| XM_011521350.1:c.424G>A | XP_011519652.1:p.Ala142Thr | |
| XM_011521351.1:c.424G>A | XP_011519653.1:p.Ala142Thr | |
| XM_011521352.1:c.424G>A | XP_011519654.1:p.Ala142Thr | |
| XM_011521353.1:c.424G>A | XP_011519655.1:p.Ala142Thr | |
| XM_011521354.1:c.-212G>A | XP_011519656.1:n.-212G>A | |
| NM_000119.3:c.424G>A | NP_000110.2:p.Ala142Thr | |
| XM_011521349.2:c.424G>A | XP_011519651.1:p.Ala142Thr | |
| XM_011521350.2:c.424G>A | XP_011519652.1:p.Ala142Thr | |
| XM_011521351.2:c.424G>A | XP_011519653.1:p.Ala142Thr | |
| XM_011521352.2:c.424G>A | XP_011519654.1:p.Ala142Thr | |
| XM_011521353.2:c.424G>A | XP_011519655.1:p.Ala142Thr | |
| NM_001114134.2:c.334G>A MANE Select | NP_001107606.1:p.Ala112Thr |