Linked Data
ClinVar Variation Id:
207400
dbSNP Id:
rs758448998
ExAC:
X:99921897 C / T
gnomAD v2:
X-99921897-C-T
gnomAD v3:
X-100666900-C-T
gnomAD v4:
X-100666900-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100666900C>T , CM000685.2:g.100666900C>T | GRCh38 |
| NC_000023.10:g.99921897C>T , CM000685.1:g.99921897C>T | GRCh37 |
| NC_000023.9:g.99808553C>T | NCBI36 |
| NG_021337.1:g.27735C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.928C>T MANE Select | ENSP00000362095.3:p.Arg310Cys | |
| ENST00000638920.1:n.931C>T | ||
| ENST00000677630.1:n.862C>T | ||
| ENST00000679590.1:n.961C>T | ||
| ENST00000373004.3:c.928C>T | ENSP00000362095.3:p.Arg310Cys | |
| NM_014467.2:c.928C>T | NP_055282.1:p.Arg310Cys | |
| XM_005262121.2:c.928C>T | XP_005262178.1:p.Arg310Cys | |
| NM_014467.3:c.928C>T MANE Select | NP_055282.1:p.Arg310Cys |