Linked Data
ClinVar Variation Id:
403927
dbSNP Id:
rs201252375
ExAC:
2:73747074 C / T
gnomAD v2:
2-73747074-C-T
gnomAD v3:
2-73519947-C-T
gnomAD v4:
2-73519947-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73519947C>T , CM000664.2:g.73519947C>T | GRCh38 |
| NC_000002.11:g.73747074C>T , CM000664.1:g.73747074C>T | GRCh37 |
| NC_000002.10:g.73600582C>T | NCBI36 |
| NG_011690.1:g.139195C>T , LRG_741:g.139195C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.9331C>T | ENSP00000507671.1:p.Arg3111Cys | |
| ENST00000682801.1:c.9331C>T | ENSP00000507862.1:p.Arg3111Cys | |
| ENST00000682859.1:c.9331C>T | ENSP00000508222.1:p.Arg3111Cys | |
| ENST00000683791.1:c.2723C>T | ||
| ENST00000684460.1:c.6783C>T | ||
| ENST00000684548.1:c.9331C>T | ENSP00000507421.1:p.Arg3111Cys | |
| ENST00000684590.1:c.3778C>T | ENSP00000507376.1:p.Arg1260Cys | |
| ENST00000684656.1:c.6783C>T | ||
| ENST00000613296.6:c.9712C>T MANE Select | ENSP00000482968.1:p.Arg3238Cys | |
| ENST00000651434.1:c.1068C>T | ||
| ENST00000652487.1:c.809C>T | ||
| ENST00000423048.5:c.3203C>T | ENSP00000399833.1:n.3203C>T | |
| ENST00000476650.2:n.3C>T | ||
| ENST00000484298.5:c.9586C>T | ENSP00000478155.1:p.Arg3196Cys | |
| ENST00000613296.4:c.9712C>T | ENSP00000482968.1:p.Arg3238Cys | |
| ENST00000614410.4:c.9712C>T | ENSP00000479094.1:p.Arg3238Cys | |
| ENST00000620466.4:n.3515C>T | ||
| NM_015120.4:c.9715C>T , LRG_741t1:c.9715C>T | NP_055935.4:p.Arg3239Cys | |
| NM_001378454.1:c.9712C>T MANE Select | NP_001365383.1:p.Arg3238Cys |