Linked Data
ClinVar Variation Id:
1492750
ClinVar RCV Id:
RCV001981200
dbSNP Id:
rs372401403
ExAC:
1:27099455 A / T
gnomAD v2:
1-27099455-A-T
gnomAD v3:
1-26772964-A-T
gnomAD v4:
1-26772964-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26772964A>T , CM000663.2:g.26772964A>T | GRCh38 |
| NC_000001.10:g.27099455A>T , CM000663.1:g.27099455A>T | GRCh37 |
| NC_000001.9:g.26972042A>T | NCBI36 |
| NG_029965.1:g.81934A>T , LRG_875:g.81934A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.3692A>T MANE Select | ENSP00000320485.7:p.Asp1231Val | |
| ENST00000374152.7:c.2543A>T | ENSP00000363267.2:p.Asp848Val | |
| ENST00000430799.7:c.2540A>T | ENSP00000390317.3:p.Asp847Val | |
| ENST00000466382.2:c.1A>T | ||
| ENST00000636072.1:n.2A>T | ||
| ENST00000636219.1:c.2546A>T | ENSP00000489842.1:p.Asp849Val | |
| ENST00000324856.11:c.3692A>T | ENSP00000320485.7:p.Asp1231Val | |
| ENST00000374152.6:c.2543A>T | ENSP00000363267.2:p.Asp848Val | |
| ENST00000430799.6:c.381A>T | ||
| ENST00000457599.6:c.3692A>T | ENSP00000387636.2:p.Asp1231Val | |
| ENST00000466382.1:c.1A>T | ||
| ENST00000615191.4:c.2540A>T | ENSP00000478955.1:p.Asp847Val | |
| NM_006015.4:c.3692A>T , LRG_875t1:c.3692A>T | NP_006006.3:p.Asp1231Val | |
| NM_139135.2:c.3692A>T | NP_624361.1:p.Asp1231Val | |
| NM_006015.5:c.3692A>T | NP_006006.3:p.Asp1231Val | |
| NM_139135.3:c.3692A>T | NP_624361.1:p.Asp1231Val | |
| NM_006015.6:c.3692A>T MANE Select | NP_006006.3:p.Asp1231Val | |
| NM_139135.4:c.3692A>T | NP_624361.1:p.Asp1231Val |