Linked Data
ClinVar Variation Id:
410996
dbSNP Id:
rs755306741
ExAC:
8:101199359 C / T
gnomAD v2:
8-101199359-C-T
gnomAD v3:
8-100187131-C-T
gnomAD v4:
8-100187131-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.100187131C>T , CM000670.2:g.100187131C>T | GRCh38 |
| NC_000008.10:g.101199359C>T , CM000670.1:g.101199359C>T | GRCh37 |
| NC_000008.9:g.101268535C>T | NCBI36 |
| NG_033834.1:g.34097C>T | |
| NG_033834.2:g.34097C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388798.7:c.713C>T MANE Select | ENSP00000373450.3:p.Ala238Val | |
| ENST00000251809.4:c.713C>T | ENSP00000251809.3:p.Ala238Val | |
| ENST00000388798.6:c.713C>T | ENSP00000373450.2:p.Ala238Val | |
| ENST00000520508.5:c.713C>T | ENSP00000428070.1:p.Ala238Val | |
| ENST00000520643.5:c.713C>T | ENSP00000427716.1:p.Ala238Val | |
| NM_003114.4:c.713C>T | NP_003105.2:p.Ala238Val | |
| NM_172218.2:c.713C>T | NP_757367.1:p.Ala238Val | |
| XM_011517240.1:c.713C>T | XP_011515542.1:p.Ala238Val | |
| XM_011517241.1:c.713C>T | XP_011515543.1:p.Ala238Val | |
| XM_011517242.1:c.713C>T | XP_011515544.1:p.Ala238Val | |
| XM_011517243.1:c.713C>T | XP_011515545.1:p.Ala238Val | |
| XM_011517244.1:c.713C>T | XP_011515546.1:p.Ala238Val | |
| XM_011517245.1:c.713C>T | XP_011515547.1:p.Ala238Val | |
| XM_011517240.2:c.713C>T | XP_011515542.1:p.Ala238Val | |
| XM_011517241.2:c.713C>T | XP_011515543.1:p.Ala238Val | |
| XM_011517242.2:c.713C>T | XP_011515544.1:p.Ala238Val | |
| XM_011517243.2:c.713C>T | XP_011515545.1:p.Ala238Val | |
| XM_011517245.2:c.713C>T | XP_011515547.1:p.Ala238Val | |
| XM_017013754.1:c.818C>T | XP_016869243.1:p.Ala273Val | |
| XM_017013755.1:c.377C>T | XP_016869244.1:p.Ala126Val | |
| XR_001745580.1:n.799C>T | ||
| XR_001745581.1:n.799C>T | ||
| XR_001745582.1:n.799C>T | ||
| XR_001745583.1:n.799C>T | ||
| NM_001374321.1:c.713C>T | NP_001361250.1:p.Ala238Val | |
| NM_003114.5:c.713C>T MANE Select | NP_003105.2:p.Ala238Val | |
| NM_172218.3:c.713C>T | NP_757367.1:p.Ala238Val |