Linked Data
ClinVar Variation Id:
3072808
ClinVar RCV Id:
RCV004013830
gnomAD v4:
11-2572950-G-A
MyVariant Identifiers:
chr11:g.2594180G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572950G>A , CM000673.2:g.2572950G>A | GRCh38 |
| NC_000011.9:g.2594180G>A , CM000673.1:g.2594180G>A | GRCh37 |
| NC_000011.8:g.2550756G>A | NCBI36 |
| NG_008935.1:g.132960G>A , LRG_287:g.132960G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.624G>A | ENSP00000434560.2:p.Glu208= | |
| ENST00000646564.2:c.478-10485G>A | ENSP00000495806.2:n.478-10485G>A | |
| ENST00000155840.12:c.885G>A MANE Select | ENSP00000155840.2:p.Glu295= | |
| ENST00000335475.6:c.504G>A | ENSP00000334497.5:p.Glu168= | |
| ENST00000646564.1:c.124-10485G>A | ENSP00000495806.1:n.124-10485G>A | |
| ENST00000155840.9:c.885G>A | ENSP00000155840.2:p.Glu295= | |
| ENST00000335475.5:c.504G>A | ENSP00000334497.5:p.Glu168= | |
| NM_000218.2:c.885G>A , LRG_287t1:c.885G>A | NP_000209.2:p.Glu295= | |
| NM_181798.1:c.504G>A , LRG_287t2:c.504G>A | NP_861463.1:p.Glu168= | |
| NM_000218.3:c.885G>A MANE Select | NP_000209.2:p.Glu295= |