Linked Data
ClinVar Variation Id:
223014
ClinVar RCV Id:
RCV000208680
dbSNP Id:
rs1054084896
gnomAD v2:
22-50968027-C-A
gnomAD v4:
22-50529598-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50529598C>A , CM000684.2:g.50529598C>A | GRCh38 |
| NC_000022.10:g.50968027C>A , CM000684.1:g.50968027C>A | GRCh37 |
| NC_000022.9:g.49314893C>A | NCBI36 |
| NG_011860.1:g.5488G>T , LRG_727:g.5488G>T | |
| NG_016235.1:g.1842G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.112G>T MANE Select | ENSP00000252029.3:p.Glu38Ter | |
| ENST00000395680.6:c.112G>T | ENSP00000379037.1:p.Glu38Ter | |
| ENST00000395681.6:c.112G>T | ENSP00000379038.1:p.Glu38Ter | |
| ENST00000650719.1:c.112G>T | ENSP00000498276.1:p.Glu38Ter | |
| ENST00000651095.1:n.251G>T | ||
| ENST00000651196.1:c.112G>T | ENSP00000499096.1:p.Glu38Ter | |
| ENST00000651401.1:c.-1+306G>T | ENSP00000499115.1:n.-1+306G>T | |
| ENST00000651906.1:n.231G>T | ||
| ENST00000652237.1:n.231G>T | ||
| ENST00000252029.7:c.112G>T | ENSP00000252029.3:p.Glu38Ter | |
| ENST00000395678.7:c.112G>T | ENSP00000379036.3:p.Glu38Ter | |
| ENST00000395680.5:c.112G>T | ENSP00000379037.1:p.Glu38Ter | |
| ENST00000395681.5:c.112G>T | ENSP00000379038.1:p.Glu38Ter | |
| ENST00000425169.1:c.112G>T | ENSP00000395875.1:p.Glu38Ter | |
| ENST00000476284.1:n.237G>T | ||
| ENST00000487162.1:n.243G>T | ||
| ENST00000487577.5:n.399G>T | ||
| NM_001113755.2:c.112G>T | NP_001107227.1:p.Glu38Ter | |
| NM_001113756.2:c.112G>T | NP_001107228.1:p.Glu38Ter | |
| NM_001257988.1:c.112G>T , LRG_727t1:c.112G>T | NP_001244917.1:p.Glu38Ter | |
| NM_001257989.1:c.112G>T , LRG_727t2:c.112G>T | NP_001244918.1:p.Glu38Ter | |
| NM_001953.4:c.112G>T | NP_001944.1:p.Glu38Ter | |
| NM_001113755.3:c.112G>T | NP_001107227.1:p.Glu38Ter | |
| NM_001113756.3:c.112G>T | NP_001107228.1:p.Glu38Ter | |
| NM_001953.5:c.112G>T MANE Select | NP_001944.1:p.Glu38Ter |