Linked Data
dbSNP Id:
rs1771658376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29946088C>T , CM000668.2:g.29946088C>T | GRCh38 |
| NC_000006.11:g.29913865C>T , CM000668.1:g.29913865C>T | GRCh37 |
| NC_000006.10:g.30021844C>T | NCBI36 |
| NG_029217.2:g.8624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706901.1:c.*633C>T | ENSP00000516612.1:n.*633C>T | |
| ENST00000706902.1:c.1093+807C>T | ENSP00000516613.1:n.1093+807C>T | |
| ENST00000706903.1:c.*124+509C>T | ENSP00000516614.1:n.*124+509C>T | |
| ENST00000706904.1:c.1093+807C>T | ENSP00000516615.1:n.1093+807C>T | |
| ENST00000706905.1:c.*633C>T | ENSP00000516616.1:n.*633C>T |