Linked Data
ClinVar Variation Id:
1702986
ClinVar RCV Id:
RCV002279897
dbSNP Id:
rs111293076
MutSpliceDB:
CA216939698
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.721563A>T , CM000673.2:g.721563A>T | GRCh38 |
| NC_000011.9:g.721563A>T , CM000673.1:g.721563A>T | GRCh37 |
| NC_000011.8:g.711563A>T | NCBI36 |
| NG_051601.1:g.21347A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318562.13:c.769-2A>T MANE Select | ENSP00000320828.8:n.769-2A>T | |
| ENST00000650127.1:c.769-2A>T | ENSP00000497389.1:n.769-2A>T | |
| ENST00000318562.12:c.769-2A>T | ENSP00000320828.8:n.769-2A>T | |
| ENST00000524474.5:n.433-2A>T | ||
| ENST00000526198.5:c.817-2A>T | ENSP00000436230.1:n.817-2A>T | |
| ENST00000526651.5:n.257-2A>T | ||
| ENST00000526909.5:c.*1474-2A>T | ENSP00000433173.1:n.*1474-2A>T | |
| ENST00000528770.5:c.201-2A>T | ||
| ENST00000529346.5:n.981-2A>T | ||
| ENST00000530452.6:c.191-2A>T | ||
| ENST00000530636.5:c.769-2A>T | ENSP00000436035.1:n.769-2A>T | |
| ENST00000531471.1:n.382-2A>T | ||
| ENST00000532545.1:n.184-2A>T | ||
| ENST00000533256.5:c.769-2A>T | ENSP00000435585.1:n.769-2A>T | |
| ENST00000533816.1:n.72-2A>T | ||
| ENST00000614442.4:c.817-2A>T | ENSP00000480201.1:n.817-2A>T | |
| NM_022772.3:c.769-2A>T | NP_073609.2:n.769-2A>T | |
| XM_017018131.1:c.769-2A>T | XP_016873620.1:n.769-2A>T | |
| XM_017018132.1:c.769-2A>T | XP_016873621.1:n.769-2A>T | |
| NM_022772.4:c.769-2A>T MANE Select | NP_073609.2:n.769-2A>T |