Linked Data
ClinVar Variation Id:
1658189
ClinVar RCV Id:
RCV002175850
dbSNP Id:
rs764369653
ExAC:
11:119077163 G / A
gnomAD v2:
11-119077163-G-A
gnomAD v4:
11-119206453-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119206453G>A , CM000673.2:g.119206453G>A | GRCh38 |
| NC_000011.9:g.119077163G>A , CM000673.1:g.119077163G>A | GRCh37 |
| NC_000011.8:g.118582373G>A | NCBI36 |
| NG_016808.1:g.5174G>A , LRG_608:g.5174G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.36G>A | ENSP00000515005.1:p.Gly12= | |
| ENST00000264033.6:c.36G>A MANE Select | ENSP00000264033.3:p.Gly12= | |
| ENST00000637974.1:c.30G>A | ENSP00000490763.1:p.Gly10= | |
| ENST00000264033.5:c.36G>A | ENSP00000264033.3:p.Gly12= | |
| ENST00000634586.1:c.36G>A | ENSP00000489218.1:p.Gly12= | |
| ENST00000634840.1:c.36G>A | ENSP00000489324.1:p.Gly12= | |
| NM_005188.3:c.36G>A , LRG_608t1:c.36G>A | NP_005179.2:p.Gly12= | |
| XM_011543057.1:c.36G>A | XP_011541359.1:p.Gly12= | |
| NM_005188.4:c.36G>A MANE Select | NP_005179.2:p.Gly12= |