Linked Data
ClinVar Variation Id:
1915792
ClinVar RCV Id:
RCV002594088
dbSNP Id:
rs777260494
ExAC:
1:12313893 C / T
gnomAD v2:
1-12313893-C-T
gnomAD v4:
1-12253836-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12253836C>T , CM000663.2:g.12253836C>T | GRCh38 |
| NC_000001.10:g.12313893C>T , CM000663.1:g.12313893C>T | GRCh37 |
| NC_000001.9:g.12236480C>T | NCBI36 |
| NG_056877.1:g.28798C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620676.6:c.669+10C>T MANE Select | ENSP00000478104.1:n.669+10C>T | |
| ENST00000489961.1:n.93+10C>T | ||
| ENST00000613099.4:c.669+10C>T | ENSP00000482233.1:n.669+10C>T | |
| ENST00000620676.4:c.669+10C>T | ENSP00000478104.1:n.669+10C>T | |
| NM_015378.3:c.669+10C>T | NP_056193.2:n.669+10C>T | |
| NM_018156.3:c.669+10C>T | NP_060626.2:n.669+10C>T | |
| NM_015378.4:c.669+10C>T MANE Select | NP_056193.2:n.669+10C>T | |
| NM_018156.4:c.669+10C>T | NP_060626.2:n.669+10C>T |