Linked Data
ClinVar Variation Id:
2489272
ClinVar RCV Id:
RCV003205692
dbSNP Id:
rs1456159460
gnomAD v2:
12-5154244-A-T
gnomAD v4:
12-5045078-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045078A>T , CM000674.2:g.5045078A>T | GRCh38 |
| NC_000012.11:g.5154244A>T , CM000674.1:g.5154244A>T | GRCh37 |
| NC_000012.10:g.5024505A>T | NCBI36 |
| NG_012198.1:g.6160A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.931A>T MANE Select | ENSP00000252321.3:p.Thr311Ser | |
| ENST00000252321.4:c.931A>T | ENSP00000252321.3:p.Thr311Ser | |
| NM_002234.3:c.931A>T | NP_002225.2:p.Thr311Ser | |
| NM_002234.4:c.931A>T MANE Select | NP_002225.2:p.Thr311Ser |