Linked Data
ClinVar Variation Id:
703063
dbSNP Id:
rs1590082970
gnomAD v4:
11-2778013-C-A
MyVariant Identifiers:
chr11:g.2799243C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2778013C>A , CM000673.2:g.2778013C>A | GRCh38 |
| NC_000011.9:g.2799243C>A , CM000673.1:g.2799243C>A | GRCh37 |
| NC_000011.8:g.2755819C>A | NCBI36 |
| NG_008935.1:g.338023C>A , LRG_287:g.338023C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1413C>A | ENSP00000434560.2:p.Ala471= | |
| ENST00000646564.2:c.1230C>A | ENSP00000495806.2:p.Ala410= | |
| ENST00000155840.12:c.1770C>A MANE Select | ENSP00000155840.2:p.Ala590= | |
| ENST00000335475.6:c.1389C>A | ENSP00000334497.5:p.Ala463= | |
| ENST00000526095.2:c.174C>A | ENSP00000494939.1:p.Ala58= | |
| ENST00000646564.1:c.876C>A | ENSP00000495806.1:p.Ala292= | |
| ENST00000155840.9:c.1770C>A | ENSP00000155840.2:p.Ala590= | |
| ENST00000335475.5:c.1389C>A | ENSP00000334497.5:p.Ala463= | |
| ENST00000526095.1:n.277C>A | ||
| NM_000218.2:c.1770C>A , LRG_287t1:c.1770C>A | NP_000209.2:p.Ala590= | |
| NM_181798.1:c.1389C>A , LRG_287t2:c.1389C>A | NP_861463.1:p.Ala463= | |
| NM_000218.3:c.1770C>A MANE Select | NP_000209.2:p.Ala590= |