Linked Data
ClinVar Variation Id:
88683
dbSNP Id:
rs201740530
ExAC:
8:101245664 C / T
gnomAD v2:
8-101245664-C-T
gnomAD v3:
8-100233436-C-T
gnomAD v4:
8-100233436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.100233436C>T , CM000670.2:g.100233436C>T | GRCh38 |
| NC_000008.10:g.101245664C>T , CM000670.1:g.101245664C>T | GRCh37 |
| NC_000008.9:g.101314840C>T | NCBI36 |
| NG_033834.1:g.80402C>T | |
| NG_033834.2:g.80402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388798.7:c.2014C>T MANE Select | ENSP00000373450.3:p.Gln672Ter | |
| ENST00000251809.4:c.2014C>T | ENSP00000251809.3:p.Gln672Ter | |
| ENST00000388798.6:c.2014C>T | ENSP00000373450.2:p.Gln672Ter | |
| ENST00000519424.1:n.266C>T | ||
| NM_003114.4:c.2014C>T | NP_003105.2:p.Gln672Ter | |
| NM_172218.2:c.2014C>T | NP_757367.1:p.Gln672Ter | |
| XM_011517240.1:c.1861C>T | XP_011515542.1:p.Gln621Ter | |
| XM_011517241.1:c.2014C>T | XP_011515543.1:p.Gln672Ter | |
| XM_011517242.1:c.2014C>T | XP_011515544.1:p.Gln672Ter | |
| XM_011517243.1:c.2014C>T | XP_011515545.1:p.Gln672Ter | |
| XM_011517244.1:c.1988+2148C>T | XP_011515546.1:n.1988+2148C>T | |
| XM_011517240.2:c.1861C>T | XP_011515542.1:p.Gln621Ter | |
| XM_011517241.2:c.2014C>T | XP_011515543.1:p.Gln672Ter | |
| XM_011517242.2:c.2014C>T | XP_011515544.1:p.Gln672Ter | |
| XM_011517243.2:c.2014C>T | XP_011515545.1:p.Gln672Ter | |
| XM_017013754.1:c.2119C>T | XP_016869243.1:p.Gln707Ter | |
| XM_017013755.1:c.1678C>T | XP_016869244.1:p.Gln560Ter | |
| XR_001745580.1:n.2074+2148C>T | ||
| XR_001745581.1:n.1907+2148C>T | ||
| XR_001745582.1:n.2000C>T | ||
| NM_001374321.1:c.2014C>T | NP_001361250.1:p.Gln672Ter | |
| NM_003114.5:c.2014C>T MANE Select | NP_003105.2:p.Gln672Ter | |
| NM_172218.3:c.2014C>T | NP_757367.1:p.Gln672Ter |