Linked Data
ClinVar Variation Id:
1766473
ClinVar RCV Id:
RCV002371514
dbSNP Id:
rs796052531
gnomAD v4:
19-1401385-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401385T>A , CM000681.2:g.1401385T>A | GRCh38 |
| NC_000019.9:g.1401384T>A , CM000681.1:g.1401384T>A | GRCh37 |
| NC_000019.8:g.1352384T>A | NCBI36 |
| NG_009785.1:g.5169A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.92A>T MANE Select | ENSP00000252288.1:p.Asp31Val | |
| ENST00000447102.8:c.92A>T | ENSP00000403536.2:p.Asp31Val | |
| ENST00000640762.1:c.92A>T | ENSP00000492031.1:p.Asp31Val | |
| ENST00000252288.6:c.92A>T | ENSP00000252288.1:p.Asp31Val | |
| ENST00000447102.7:c.92A>T | ENSP00000403536.2:p.Asp31Val | |
| NM_000156.5:c.92A>T | NP_000147.1:p.Asp31Val | |
| NM_138924.2:c.92A>T | NP_620279.1:p.Asp31Val | |
| NM_000156.6:c.92A>T MANE Select | NP_000147.1:p.Asp31Val | |
| NM_138924.3:c.92A>T | NP_620279.1:p.Asp31Val |