Linked Data
ClinVar Variation Id:
511969
dbSNP Id:
rs201364493
ExAC:
11:2608935 C / A
gnomAD v2:
11-2608935-C-A
gnomAD v3:
11-2587705-C-A
gnomAD v4:
11-2587705-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2587705C>A , CM000673.2:g.2587705C>A | GRCh38 |
| NC_000011.9:g.2608935C>A , CM000673.1:g.2608935C>A | GRCh37 |
| NC_000011.8:g.2565511C>A | NCBI36 |
| NG_008935.1:g.147715C>A , LRG_287:g.147715C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.894+13C>A | ENSP00000434560.2:n.894+13C>A | |
| ENST00000646564.2:c.711+13C>A | ENSP00000495806.2:n.711+13C>A | |
| ENST00000155840.12:c.1251+13C>A MANE Select | ENSP00000155840.2:n.1251+13C>A | |
| ENST00000335475.6:c.870+13C>A | ENSP00000334497.5:n.870+13C>A | |
| ENST00000646564.1:c.357+13C>A | ENSP00000495806.1:n.357+13C>A | |
| ENST00000155840.9:c.1251+13C>A | ENSP00000155840.2:n.1251+13C>A | |
| ENST00000335475.5:c.870+13C>A | ENSP00000334497.5:n.870+13C>A | |
| NM_000218.2:c.1251+13C>A , LRG_287t1:c.1251+13C>A | NP_000209.2:n.1251+13C>A | |
| NM_181798.1:c.870+13C>A , LRG_287t2:c.870+13C>A | NP_861463.1:n.870+13C>A | |
| NM_000218.3:c.1251+13C>A MANE Select | NP_000209.2:n.1251+13C>A |