Linked Data
ClinVar Variation Id:
316658
dbSNP Id:
rs182603751
ExAC:
15:58834027 C / T
gnomAD v2:
15-58834027-C-T
gnomAD v3:
15-58541828-C-T
gnomAD v4:
15-58541828-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58541828C>T , CM000677.2:g.58541828C>T | GRCh38 |
| NC_000015.9:g.58834027C>T , CM000677.1:g.58834027C>T | GRCh37 |
| NC_000015.8:g.56621319C>T | NCBI36 |
| NG_011465.1:g.114853C>T | |
| NG_011465.2:g.114853C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299022.10:c.317C>T MANE Select | ENSP00000299022.5:p.Ala106Val | |
| ENST00000299022.9:c.317C>T | ENSP00000299022.5:p.Ala106Val | |
| ENST00000356113.10:c.317C>T | ENSP00000348425.6:p.Ala106Val | |
| ENST00000414170.7:c.317C>T | ENSP00000395569.3:p.Ala106Val | |
| ENST00000433326.2:c.274-706C>T | ENSP00000395002.2:n.274-706C>T | |
| ENST00000559845.5:n.174C>T | ||
| ENST00000560664.1:n.81C>T | ||
| NM_000236.2:c.317C>T | NP_000227.2:p.Ala106Val | |
| XM_005254372.1:c.317C>T | XP_005254429.1:p.Ala106Val | |
| XM_005254374.3:c.254C>T | XP_005254431.1:p.Ala85Val | |
| XM_006720502.2:c.176C>T | XP_006720565.1:p.Ala59Val | |
| XM_011521551.1:c.317C>T | XP_011519853.1:p.Ala106Val | |
| XM_005254374.4:c.353C>T | XP_005254431.2:p.Ala118Val | |
| XM_006720502.4:c.176C>T | XP_006720565.1:p.Ala59Val | |
| XM_017022176.1:c.353C>T | XP_016877665.1:p.Ala118Val | |
| XM_024449916.1:c.317C>T | XP_024305684.1:p.Ala106Val | |
| XM_024449917.1:c.317C>T | XP_024305685.1:p.Ala106Val | |
| NM_000236.3:c.317C>T MANE Select | NP_000227.2:p.Ala106Val |