Linked Data
dbSNP Id:
rs10740051
gnomAD v2:
10-51570152-G-A
gnomAD v3:
10-46025670-C-T
gnomAD v4:
10-46025670-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.46025670C>T , CM000672.2:g.46025670C>T | GRCh38 |
| NC_000010.10:g.51570152G>A , CM000672.1:g.51570152G>A | GRCh37 |
| NC_000010.9:g.51240158G>A | NCBI36 |
| NG_023372.1:g.10045G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000581486.6:c.-15+4856G>A MANE Select | ENSP00000462943.1:n.-15+4856G>A | |
| ENST00000578454.5:c.34+1762G>A | ENSP00000463027.1:n.34+1762G>A | |
| ENST00000579039.2:c.34+1762G>A | ENSP00000463455.1:n.34+1762G>A | |
| ENST00000580070.5:c.-128+4856G>A | ENSP00000462352.1:n.-128+4856G>A | |
| ENST00000581486.5:c.-15+4856G>A | ENSP00000462943.1:n.-15+4856G>A | |
| ENST00000585056.5:c.-71+4856G>A | ENSP00000463022.1:n.-71+4856G>A | |
| NM_001145260.1:c.34+1762G>A | NP_001138732.1:n.34+1762G>A | |
| NM_001145261.1:c.34+1762G>A | NP_001138733.1:n.34+1762G>A | |
| NM_001145263.1:c.-15+4856G>A | NP_001138735.1:n.-15+4856G>A | |
| NM_001145260.2:c.34+1762G>A | NP_001138732.1:n.34+1762G>A | |
| NM_001145261.2:c.34+1762G>A | NP_001138733.1:n.34+1762G>A | |
| NM_001145263.2:c.-15+4856G>A MANE Select | NP_001138735.1:n.-15+4856G>A |