Linked Data
dbSNP Id:
rs1706844522
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133538899C>T , CM000672.2:g.133538899C>T | GRCh38 |
| NC_000010.10:g.135352403C>T , CM000672.1:g.135352403C>T | GRCh37 |
| NC_000010.9:g.135202393C>T | NCBI36 |
| NG_008383.1:g.16537C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.1417C>T MANE Select | ENSP00000252945.3:p.Pro473Ser | |
| ENST00000252945.7:c.1417C>T | ENSP00000252945.3:p.Pro473Ser | |
| ENST00000368520.1:n.1358+1007C>T | ||
| ENST00000463117.6:c.1417C>T | ENSP00000440689.1:p.Pro473Ser | |
| ENST00000469258.1:n.513C>T | ||
| NM_000773.3:c.1417C>T | NP_000764.1:p.Pro473Ser | |
| NM_000773.4:c.1417C>T MANE Select | NP_000764.1:p.Pro473Ser |