Linked Data
ClinVar Variation Id:
581504
dbSNP Id:
rs1564996998
gnomAD v3:
11-36593628-A-G
gnomAD v4:
11-36593628-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36593628A>G , CM000673.2:g.36593628A>G | GRCh38 |
| NC_000011.9:g.36615178A>G , CM000673.1:g.36615178A>G | GRCh37 |
| NC_000011.8:g.36571754A>G | NCBI36 |
| NG_007573.1:g.9609T>C , LRG_99:g.9609T>C | |
| NG_033154.1:g.4136A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.541T>C | ENSP00000436895.2:p.Cys181Arg | |
| ENST00000529083.2:c.541T>C | ENSP00000436327.2:p.Cys181Arg | |
| ENST00000532616.2:c.541T>C | ENSP00000432174.2:p.Cys181Arg | |
| ENST00000311485.8:c.541T>C MANE Select | ENSP00000308620.4:p.Cys181Arg | |
| ENST00000311485.7:c.541T>C | ENSP00000308620.3:p.Cys181Arg | |
| ENST00000524423.1:n.131+4474T>C | ||
| ENST00000618712.4:c.541T>C | ENSP00000478672.1:p.Cys181Arg | |
| NM_000536.3:c.541T>C | NP_000527.2:p.Cys181Arg | |
| NM_001243785.1:c.541T>C | NP_001230714.1:p.Cys181Arg | |
| NM_001243786.1:c.541T>C | NP_001230715.1:p.Cys181Arg | |
| NM_000536.4:c.541T>C MANE Select | NP_000527.2:p.Cys181Arg | |
| NM_001243785.2:c.541T>C | NP_001230714.1:p.Cys181Arg | |
| NM_001243786.2:c.541T>C | NP_001230715.1:p.Cys181Arg |