Linked Data
ClinVar Variation Id:
870499
dbSNP Id:
rs757343575
gnomAD v2:
6-32810471-G-A
gnomAD v3:
6-32842694-G-A
gnomAD v4:
6-32842694-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32842694G>A , CM000668.2:g.32842694G>A | GRCh38 |
| NC_000006.11:g.32810471G>A , CM000668.1:g.32810471G>A | GRCh37 |
| NC_000006.10:g.32918449G>A | NCBI36 |
| NG_009793.3:g.1077C>T | |
| NG_028165.1:g.7242C>T | |
| NG_009793.4:g.1077C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.564C>T | ||
| ENST00000697612.1:n.1242C>T | ||
| ENST00000374881.3:c.373C>T | ENSP00000364015.2:p.Arg125Cys | |
| ENST00000374882.8:c.385C>T MANE Select | ENSP00000364016.4:p.Arg129Cys | |
| ENST00000650411.1:n.1706C>T | ||
| ENST00000650793.1:n.564C>T | ||
| ENST00000374881.2:c.373C>T | ENSP00000364015.2:p.Arg125Cys | |
| ENST00000374882.7:c.385C>T | ENSP00000364016.3:p.Arg129Cys | |
| ENST00000395339.7:c.313C>T | ENSP00000378748.3:p.Arg105Cys | |
| ENST00000484003.1:n.769C>T | ||
| NM_004159.4:c.373C>T | NP_004150.1:p.Arg125Cys | |
| NM_148919.3:c.385C>T | NP_683720.2:p.Arg129Cys | |
| NM_148919.4:c.385C>T MANE Select | NP_683720.2:p.Arg129Cys | |
| NM_004159.5:c.373C>T | NP_004150.1:p.Arg125Cys |