Linked Data
ClinVar Variation Id:
372548
dbSNP Id:
rs141074983
ExAC:
2:219747106 C / T
gnomAD v2:
2-219747106-C-T
gnomAD v3:
2-218882384-C-T
gnomAD v4:
2-218882384-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218882384C>T , CM000664.2:g.218882384C>T | GRCh38 |
| NC_000002.11:g.219747106C>T , CM000664.1:g.219747106C>T | GRCh37 |
| NC_000002.10:g.219455350C>T | NCBI36 |
| NG_012179.1:g.6852C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.337C>T MANE Select | ENSP00000258411.3:p.Arg113Cys | |
| ENST00000258411.7:c.337C>T | ENSP00000258411.3:p.Arg113Cys | |
| ENST00000458582.1:c.224C>T | ||
| NM_025216.2:c.337C>T | NP_079492.2:p.Arg113Cys | |
| XM_011511928.1:c.286C>T | XP_011510230.1:p.Arg96Cys | |
| XM_011511929.1:c.241C>T | XP_011510231.1:p.Arg81Cys | |
| XM_011511930.1:c.337C>T | XP_011510232.1:p.Arg113Cys | |
| XM_011511929.2:c.241C>T | XP_011510231.1:p.Arg81Cys | |
| NM_025216.3:c.337C>T MANE Select | NP_079492.2:p.Arg113Cys |