Linked Data
ClinVar Variation Id:
214667
dbSNP Id:
rs144037629
ExAC:
2:224824384 C / T
gnomAD v2:
2-224824384-C-T
gnomAD v3:
2-223959667-C-T
gnomAD v4:
2-223959667-C-T
COSMIC:
COSM1405845
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223959667C>T , CM000664.2:g.223959667C>T | GRCh38 |
| NC_000002.11:g.224824384C>T , CM000664.1:g.224824384C>T | GRCh37 |
| NC_000002.10:g.224532628C>T | NCBI36 |
| NG_050679.1:g.13778C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258383.4:c.313C>T MANE Select | ENSP00000258383.3:p.Arg105Cys | |
| ENST00000258383.3:c.313C>T | ENSP00000258383.3:p.Arg105Cys | |
| NM_022915.3:c.313C>T | NP_075066.1:p.Arg105Cys | |
| XM_011511668.1:c.271C>T | XP_011509970.1:p.Arg91Cys | |
| XM_011511668.2:c.271C>T | XP_011509970.1:p.Arg91Cys | |
| NM_022915.4:c.313C>T | NP_075066.1:p.Arg105Cys | |
| NM_022915.5:c.313C>T MANE Select | NP_075066.1:p.Arg105Cys |