Linked Data
ClinVar Variation Id:
329182
ClinVar RCV Id:
RCV000269357
dbSNP Id:
rs536842684
gnomAD v2:
19-3926017-A-T
gnomAD v3:
19-3926019-A-T
gnomAD v4:
19-3926019-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3926019A>T , CM000681.2:g.3926019A>T | GRCh38 |
| NC_000019.9:g.3926017A>T , CM000681.1:g.3926017A>T | GRCh37 |
| NC_000019.8:g.3877017A>T | NCBI36 |
| NG_012638.1:g.50400A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450849.7:c.*1427A>T MANE Select | ENSP00000390941.1:n.*1427A>T | |
| ENST00000450849.6:c.*1427A>T | ENSP00000390941.1:n.*1427A>T | |
| ENST00000600960.1:c.2607A>T | ENSP00000470842.1:n.2607A>T | |
| ENST00000601323.1:n.440-239A>T | ||
| NM_033064.4:c.*1427A>T | NP_149053.1:n.*1427A>T | |
| NM_033064.5:c.*1427A>T MANE Select | NP_149053.1:n.*1427A>T |