Linked Data
ClinVar Variation Id:
1255110
ClinVar RCV Id:
RCV001653219
dbSNP Id:
rs375510393
ExAC:
11:65978578 C / T
gnomAD v2:
11-65978578-C-T
gnomAD v3:
11-66211107-C-T
gnomAD v4:
11-66211107-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211107C>T , CM000673.2:g.66211107C>T | GRCh38 |
| NC_000011.9:g.65978578C>T , CM000673.1:g.65978578C>T | GRCh37 |
| NC_000011.8:g.65735154C>T | NCBI36 |
| NG_033900.1:g.145755C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.535-27C>T MANE Select | ENSP00000316454.4:n.535-27C>T | |
| ENST00000320580.8:c.535-27C>T | ENSP00000316454.4:n.535-27C>T | |
| ENST00000527224.1:n.659-27C>T | ||
| ENST00000527380.1:c.241-27C>T | ENSP00000432639.1:n.241-27C>T | |
| ENST00000533756.5:c.226-27C>T | ENSP00000437150.1:n.226-27C>T | |
| NM_018026.3:c.535-27C>T | NP_060496.2:n.535-27C>T | |
| XM_011545162.1:c.214-27C>T | XP_011543464.1:n.214-27C>T | |
| XM_011545163.1:c.205-27C>T | XP_011543465.1:n.205-27C>T | |
| XM_011545164.1:c.196-27C>T | XP_011543466.1:n.196-27C>T | |
| XM_011545164.2:c.196-27C>T | XP_011543466.1:n.196-27C>T | |
| XR_001747924.1:n.746-27C>T | ||
| NM_018026.4:c.535-27C>T MANE Select | NP_060496.2:n.535-27C>T |