Linked Data
ClinVar Variation Id:
226864
dbSNP Id:
rs73418068
ExAC:
11:17591779 G / A
gnomAD v2:
11-17591779-G-A
gnomAD v3:
11-17570232-G-A
gnomAD v4:
11-17570232-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17570232G>A , CM000673.2:g.17570232G>A | GRCh38 |
| NC_000011.9:g.17591779G>A , CM000673.1:g.17591779G>A | GRCh37 |
| NC_000011.8:g.17548355G>A | NCBI36 |
| NG_033191.1:g.27860G>A | |
| NG_033191.2:g.27860G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399391.7:c.1833G>A | ENSP00000382323.2:p.Arg611= | |
| ENST00000399397.6:c.1797G>A MANE Select | ENSP00000382329.2:p.Arg599= | |
| ENST00000399391.6:c.1833G>A | ENSP00000382323.2:p.Arg611= | |
| ENST00000399397.5:c.1797G>A | ENSP00000382329.2:p.Arg599= | |
| ENST00000498332.5:n.1703G>A | ||
| NM_001277269.1:c.1833G>A | NP_001264198.1:p.Arg611= | |
| NM_001292063.1:c.1797G>A | NP_001278992.1:p.Arg599= | |
| NM_001277269.2:c.1833G>A | NP_001264198.1:p.Arg611= | |
| NM_001292063.2:c.1797G>A MANE Select | NP_001278992.1:p.Arg599= |