Linked Data
ClinVar Variation Id:
552416
ClinVar RCV Id:
RCV000667670
dbSNP Id:
rs1555341986
gnomAD v4:
13-20189425-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189425A>G , CM000675.2:g.20189425A>G | GRCh38 |
| NC_000013.10:g.20763564A>G , CM000675.1:g.20763564A>G | GRCh37 |
| NC_000013.9:g.19661564A>G | NCBI36 |
| NG_008358.1:g.8551T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.157T>C | ENSP00000372295.1:p.Cys53Arg | |
| ENST00000382848.5:c.157T>C MANE Select | ENSP00000372299.4:p.Cys53Arg | |
| ENST00000382844.1:c.157T>C | ENSP00000372295.1:p.Cys53Arg | |
| ENST00000382848.4:c.157T>C | ENSP00000372299.4:p.Cys53Arg | |
| NM_004004.5:c.157T>C | NP_003995.2:p.Cys53Arg | |
| XM_011535049.1:c.157T>C | XP_011533351.1:p.Cys53Arg | |
| XM_011535049.2:c.157T>C | XP_011533351.1:p.Cys53Arg | |
| NM_004004.6:c.157T>C MANE Select | NP_003995.2:p.Cys53Arg |