Linked Data
ClinVar Variation Id:
328352
dbSNP Id:
rs886054247
gnomAD v2:
19-1401343-A-T
gnomAD v3:
19-1401344-A-T
gnomAD v4:
19-1401344-A-T
ERepo:
CA10651554/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401344A>T , CM000681.2:g.1401344A>T | GRCh38 |
| NC_000019.9:g.1401343A>T , CM000681.1:g.1401343A>T | GRCh37 |
| NC_000019.8:g.1352343A>T | NCBI36 |
| NG_009785.1:g.5210T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252288.8:c.133T>A MANE Select | ENSP00000252288.1:p.Trp45Arg | |
| ENST00000447102.8:c.133T>A | ENSP00000403536.2:p.Trp45Arg | |
| ENST00000640762.1:c.112+21T>A | ENSP00000492031.1:n.112+21T>A | |
| ENST00000252288.6:c.133T>A | ENSP00000252288.1:p.Trp45Arg | |
| ENST00000447102.7:c.133T>A | ENSP00000403536.2:p.Trp45Arg | |
| NM_000156.5:c.133T>A | NP_000147.1:p.Trp45Arg | |
| NM_138924.2:c.133T>A | NP_620279.1:p.Trp45Arg | |
| NM_000156.6:c.133T>A MANE Select | NP_000147.1:p.Trp45Arg | |
| NM_138924.3:c.133T>A | NP_620279.1:p.Trp45Arg |