Linked Data
ClinVar Variation Id:
1525380
dbSNP Id:
rs373227792
gnomAD v4:
11-2572869-C-A
MyVariant Identifiers:
chr11:g.2594099C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572869C>A , CM000673.2:g.2572869C>A | GRCh38 |
| NC_000011.9:g.2594099C>A , CM000673.1:g.2594099C>A | GRCh37 |
| NC_000011.8:g.2550675C>A | NCBI36 |
| NG_008935.1:g.132879C>A , LRG_287:g.132879C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.543C>A | ENSP00000434560.2:p.Ile181= | |
| ENST00000646564.2:c.478-10566C>A | ENSP00000495806.2:n.478-10566C>A | |
| ENST00000155840.12:c.804C>A MANE Select | ENSP00000155840.2:p.Ile268= | |
| ENST00000335475.6:c.423C>A | ENSP00000334497.5:p.Ile141= | |
| ENST00000646564.1:c.124-10566C>A | ENSP00000495806.1:n.124-10566C>A | |
| ENST00000155840.9:c.804C>A | ENSP00000155840.2:p.Ile268= | |
| ENST00000335475.5:c.423C>A | ENSP00000334497.5:p.Ile141= | |
| ENST00000496887.6:c.543C>A | ENSP00000434560.1:p.Ile181= | |
| NM_000218.2:c.804C>A , LRG_287t1:c.804C>A | NP_000209.2:p.Ile268= | |
| NM_181798.1:c.423C>A , LRG_287t2:c.423C>A | NP_861463.1:p.Ile141= | |
| NM_000218.3:c.804C>A MANE Select | NP_000209.2:p.Ile268= |