Linked Data
ClinVar Variation Id:
1419133
ClinVar RCV Id:
RCV001931109
dbSNP Id:
rs1645824500
gnomAD v4:
1-68431326-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431326T>A , CM000663.2:g.68431326T>A | GRCh38 |
| NC_000001.10:g.68897009T>A , CM000663.1:g.68897009T>A | GRCh37 |
| NC_000001.9:g.68669597T>A | NCBI36 |
| NG_008472.1:g.23634A>T | |
| NG_008472.2:g.23634A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1294A>T MANE Select | ENSP00000262340.5:p.Thr432Ser | |
| ENST00000262340.5:c.1294A>T | ENSP00000262340.5:p.Thr432Ser | |
| NM_000329.2:c.1294A>T | NP_000320.1:p.Thr432Ser | |
| XM_017002027.1:c.1018A>T | XP_016857516.1:p.Thr340Ser | |
| NM_000329.3:c.1294A>T MANE Select | NP_000320.1:p.Thr432Ser |