Linked Data
dbSNP Id:
rs776503285
ExAC:
5:145719255 A / T
gnomAD v2:
5-145719255-A-T
gnomAD v4:
5-146339692-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339692A>T , CM000667.2:g.146339692A>T | GRCh38 |
| NC_000005.9:g.145719255A>T , CM000667.1:g.145719255A>T | GRCh37 |
| NC_000005.8:g.145699448A>T | NCBI36 |
| NG_011885.1:g.5669A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.265A>T MANE Select | ENSP00000495718.1:p.Thr89Ser | |
| ENST00000230732.4:c.265A>T | ENSP00000230732.4:p.Thr89Ser | |
| NM_002700.2:c.265A>T | NP_002691.1:p.Thr89Ser | |
| NM_002700.3:c.265A>T MANE Select | NP_002691.1:p.Thr89Ser |