Linked Data
ClinVar Variation Id:
226917
dbSNP Id:
rs10832824
ExAC:
11:17663444 C / T
gnomAD v2:
11-17663444-C-T
gnomAD v3:
11-17641897-C-T
gnomAD v4:
11-17641897-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17641897C>T , CM000673.2:g.17641897C>T | GRCh38 |
| NC_000011.9:g.17663444C>T , CM000673.1:g.17663444C>T | GRCh37 |
| NC_000011.8:g.17620020C>T | NCBI36 |
| NG_033191.1:g.99525C>T | |
| NG_033191.2:g.99525C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399391.7:c.8277C>T | ENSP00000382323.2:p.Cys2759= | |
| ENST00000399397.6:c.8241C>T MANE Select | ENSP00000382329.2:p.Cys2747= | |
| ENST00000399391.6:c.8277C>T | ENSP00000382323.2:p.Cys2759= | |
| ENST00000399397.5:c.8241C>T | ENSP00000382329.2:p.Cys2747= | |
| NM_001277269.1:c.8277C>T | NP_001264198.1:p.Cys2759= | |
| NM_001292063.1:c.8241C>T | NP_001278992.1:p.Cys2747= | |
| NM_001277269.2:c.8277C>T | NP_001264198.1:p.Cys2759= | |
| NM_001292063.2:c.8241C>T MANE Select | NP_001278992.1:p.Cys2747= |