Linked Data
ClinVar Variation Id:
2790671
ClinVar RCV Id:
RCV003670011
dbSNP Id:
rs888444898
gnomAD v2:
13-20763562-G-A
gnomAD v4:
13-20189423-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189423G>A , CM000675.2:g.20189423G>A | GRCh38 |
| NC_000013.10:g.20763562G>A , CM000675.1:g.20763562G>A | GRCh37 |
| NC_000013.9:g.19661562G>A | NCBI36 |
| NG_008358.1:g.8553C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382844.2:c.159C>T | ENSP00000372295.1:p.Cys53= | |
| ENST00000382848.5:c.159C>T MANE Select | ENSP00000372299.4:p.Cys53= | |
| ENST00000382844.1:c.159C>T | ENSP00000372295.1:p.Cys53= | |
| ENST00000382848.4:c.159C>T | ENSP00000372299.4:p.Cys53= | |
| NM_004004.5:c.159C>T | NP_003995.2:p.Cys53= | |
| XM_011535049.1:c.159C>T | XP_011533351.1:p.Cys53= | |
| XM_011535049.2:c.159C>T | XP_011533351.1:p.Cys53= | |
| NM_004004.6:c.159C>T MANE Select | NP_003995.2:p.Cys53= |