Linked Data
ClinVar Variation Id:
2189390
dbSNP Id:
rs763708273
ExAC:
17:45363693 C / T
gnomAD v2:
17-45363693-C-T
gnomAD v3:
17-47286327-C-T
gnomAD v4:
17-47286327-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286327C>T , CM000679.2:g.47286327C>T | GRCh38 |
| NC_000017.10:g.45363693C>T , CM000679.1:g.45363693C>T | GRCh37 |
| NC_000017.9:g.42718692C>T | NCBI36 |
| NG_008332.2:g.37486C>T , LRG_481:g.37486C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.682C>T | ENSP00000513002.1:p.Arg228Cys | |
| ENST00000559488.7:c.682C>T MANE Select | ENSP00000452786.2:p.Arg228Cys | |
| ENST00000559488.5:c.682C>T | ENSP00000452786.1:p.Arg228Cys | |
| ENST00000560629.1:c.647C>T | ||
| ENST00000571680.1:c.682C>T | ENSP00000461626.1:p.Arg228Cys | |
| NM_000212.2:c.682C>T , LRG_481t1:c.682C>T | NP_000203.2:p.Arg228Cys | |
| NM_000212.3:c.682C>T MANE Select | NP_000203.2:p.Arg228Cys |