Linked Data
ClinVar Variation Id:
193574
dbSNP Id:
rs61745150
ExAC:
15:28235735 G / A
gnomAD v2:
15-28235735-G-A
gnomAD v3:
15-27990589-G-A
gnomAD v4:
15-27990589-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27990589G>A , CM000677.2:g.27990589G>A | GRCh38 |
| NC_000015.9:g.28235735G>A , CM000677.1:g.28235735G>A | GRCh37 |
| NC_000015.8:g.25909330G>A | NCBI36 |
| NG_009846.1:g.113724C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354638.8:c.1103C>T MANE Select | ENSP00000346659.3:p.Ala368Val | |
| ENST00000353809.9:c.1045-923C>T | ENSP00000261276.8:n.1045-923C>T | |
| ENST00000354638.7:c.1103C>T | ENSP00000346659.3:p.Ala368Val | |
| NM_000275.2:c.1103C>T | NP_000266.2:p.Ala368Val | |
| NM_001300984.1:c.1045-923C>T | NP_001287913.1:n.1045-923C>T | |
| XM_011521639.1:c.1127C>T | XP_011519941.1:p.Ala376Val | |
| XM_011521640.1:c.1103C>T | XP_011519942.1:p.Ala368Val | |
| XM_011521641.1:c.1127C>T | XP_011519943.1:p.Ala376Val | |
| XM_011521642.1:c.1069-923C>T | XP_011519944.1:n.1069-923C>T | |
| XM_011521643.1:c.1069-923C>T | XP_011519945.1:n.1069-923C>T | |
| XM_011521644.1:c.1069-3946C>T | XP_011519946.1:n.1069-3946C>T | |
| XM_011521645.1:c.1127C>T | XP_011519947.1:p.Ala376Val | |
| XM_011521646.1:c.1127C>T | XP_011519948.1:p.Ala376Val | |
| XM_011521647.1:c.1127C>T | XP_011519949.1:p.Ala376Val | |
| XR_931843.1:n.2488C>T | ||
| XM_011521640.2:c.1103C>T | XP_011519942.1:p.Ala368Val | |
| XM_017022255.1:c.1127C>T | XP_016877744.1:p.Ala376Val | |
| XM_017022256.1:c.1127C>T | XP_016877745.1:p.Ala376Val | |
| XM_017022257.1:c.1069-923C>T | XP_016877746.1:n.1069-923C>T | |
| XM_017022258.1:c.1127C>T | XP_016877747.1:p.Ala376Val | |
| XM_017022259.1:c.1069-923C>T | XP_016877748.1:n.1069-923C>T | |
| XM_017022260.1:c.1069-3946C>T | XP_016877749.1:n.1069-3946C>T | |
| XM_017022261.1:c.932C>T | XP_016877750.1:p.Ala311Val | |
| XM_017022262.1:c.1127C>T | XP_016877751.1:p.Ala376Val | |
| XM_017022263.1:c.1127C>T | XP_016877752.1:p.Ala376Val | |
| XM_017022264.1:c.1127C>T | XP_016877753.1:p.Ala376Val | |
| XM_017022265.1:c.1127C>T | XP_016877754.1:p.Ala376Val | |
| XR_001751294.1:n.1216C>T | ||
| NM_000275.3:c.1103C>T MANE Select | NP_000266.2:p.Ala368Val | |
| NM_001300984.2:c.1045-923C>T | NP_001287913.1:n.1045-923C>T |