Linked Data
ClinVar Variation Id:
1126533
ClinVar RCV Id:
RCV001458603
dbSNP Id:
rs199473411
gnomAD v3:
11-2585275-C-A
gnomAD v4:
11-2585275-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2585275C>A , CM000673.2:g.2585275C>A | GRCh38 |
| NC_000011.9:g.2606505C>A , CM000673.1:g.2606505C>A | GRCh37 |
| NC_000011.8:g.2563081C>A | NCBI36 |
| NG_008935.1:g.145285C>A , LRG_287:g.145285C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.771+1730C>A | ENSP00000434560.2:n.771+1730C>A | |
| ENST00000646564.2:c.588+1730C>A | ENSP00000495806.2:n.588+1730C>A | |
| ENST00000155840.12:c.1096C>A MANE Select | ENSP00000155840.2:p.Arg366= | |
| ENST00000335475.6:c.715C>A | ENSP00000334497.5:p.Arg239= | |
| ENST00000646564.1:c.234+1730C>A | ENSP00000495806.1:n.234+1730C>A | |
| ENST00000155840.9:c.1096C>A | ENSP00000155840.2:p.Arg366= | |
| ENST00000335475.5:c.715C>A | ENSP00000334497.5:p.Arg239= | |
| NM_000218.2:c.1096C>A , LRG_287t1:c.1096C>A | NP_000209.2:p.Arg366= | |
| NM_181798.1:c.715C>A , LRG_287t2:c.715C>A | NP_861463.1:p.Arg239= | |
| NM_000218.3:c.1096C>A MANE Select | NP_000209.2:p.Arg366= |