Linked Data
ClinVar Variation Id:
456340
dbSNP Id:
rs144832924
ExAC:
16:3658881 G / A
gnomAD v2:
16-3658881-G-A
gnomAD v3:
16-3608880-G-A
gnomAD v4:
16-3608880-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3608880G>A , CM000678.2:g.3608880G>A | GRCh38 |
| NC_000016.9:g.3658881G>A , CM000678.1:g.3658881G>A | GRCh37 |
| NC_000016.8:g.3598882G>A | NCBI36 |
| NG_028123.1:g.7705C>T , LRG_503:g.7705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697859.1:n.707C>T | ||
| ENST00000294008.4:c.85C>T MANE Select | ENSP00000294008.3:p.Arg29Cys | |
| ENST00000294008.3:c.85C>T | ENSP00000294008.3:p.Arg29Cys | |
| ENST00000466154.5:n.380C>T | ||
| ENST00000486524.1:n.713C>T | ||
| NM_032444.2:c.85C>T , LRG_503t1:c.85C>T | NP_115820.2:p.Arg29Cys | |
| XM_011522715.1:c.85C>T | XP_011521017.1:p.Arg29Cys | |
| NM_032444.3:c.85C>T | NP_115820.2:p.Arg29Cys | |
| XM_011522715.3:c.85C>T | XP_011521017.1:p.Arg29Cys | |
| XM_024450471.1:c.85C>T | XP_024306239.1:p.Arg29Cys | |
| NM_032444.4:c.85C>T MANE Select | NP_115820.2:p.Arg29Cys |