Linked Data
ClinVar Variation Id:
234315
dbSNP Id:
rs35193202
ExAC:
11:68696783 C / T
gnomAD v2:
11-68696783-C-T
gnomAD v3:
11-68929315-C-T
gnomAD v4:
11-68929315-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68929315C>T , CM000673.2:g.68929315C>T | GRCh38 |
| NC_000011.9:g.68696783C>T , CM000673.1:g.68696783C>T | GRCh37 |
| NC_000011.8:g.68453359C>T | NCBI36 |
| NG_007976.1:g.30465C>T , LRG_250:g.30465C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1193C>T MANE Select | ENSP00000255078.4:p.Ala398Val | |
| ENST00000674698.1:n.133C>T | ||
| ENST00000674745.1:c.358C>T | ENSP00000502738.1:n.358C>T | |
| ENST00000674775.1:n.393C>T | ||
| ENST00000674955.1:c.1193C>T | ENSP00000502463.1:p.Ala398Val | |
| ENST00000675118.1:c.681C>T | ||
| ENST00000675305.1:c.513C>T | ENSP00000502365.1:n.513C>T | |
| ENST00000675310.1:n.133C>T | ||
| ENST00000675493.1:n.354C>T | ||
| ENST00000675615.1:c.1193C>T | ENSP00000502413.1:p.Ala398Val | |
| ENST00000675648.1:n.568C>T | ||
| ENST00000675684.1:c.320C>T | ENSP00000502192.1:p.Ala107Val | |
| ENST00000675755.1:n.133C>T | ||
| ENST00000676083.1:n.133C>T | ||
| ENST00000676173.1:n.1237C>T | ||
| ENST00000676228.1:c.*516C>T | ENSP00000502375.1:n.*516C>T | |
| ENST00000676240.1:n.133C>T | ||
| ENST00000676400.1:n.133C>T | ||
| ENST00000255078.7:c.1193C>T | ENSP00000255078.3:p.Ala398Val | |
| ENST00000568742.1:n.303C>T | ||
| NM_002180.2:c.1193C>T , LRG_250t1:c.1193C>T | NP_002171.2:p.Ala398Val | |
| XM_005273974.2:c.182C>T | XP_005274031.1:p.Ala61Val | |
| XM_005273976.1:c.1193C>T | XP_005274033.1:p.Ala398Val | |
| XR_247198.1:n.1295C>T | ||
| XR_949903.1:n.1295C>T | ||
| XM_005273976.2:c.1193C>T | XP_005274033.1:p.Ala398Val | |
| XM_017017669.2:c.182C>T | XP_016873158.1:p.Ala61Val | |
| XM_017017670.2:c.182C>T | XP_016873159.1:p.Ala61Val | |
| XM_017017671.2:c.1193C>T | XP_016873160.1:p.Ala398Val | |
| XR_949903.3:n.1291C>T | ||
| NM_002180.3:c.1193C>T MANE Select | NP_002171.2:p.Ala398Val |