Linked Data
ClinVar Variation Id:
8279
ClinVar RCV Id:
RCV000008769
RCV000024381
RCV000150236
RCV000171752
RCV000249612
RCV000477819
RCV000769171
RCV000987087
RCV001084478
RCV001144018
dbSNP Id:
rs116840776
ExAC:
3:8787313 C / G
gnomAD v2:
3-8787313-C-G
gnomAD v3:
3-8745627-C-G
gnomAD v4:
3-8745627-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745627C>G , CM000665.2:g.8745627C>G | GRCh38 |
| NC_000003.11:g.8787313C>G , CM000665.1:g.8787313C>G | GRCh37 |
| NC_000003.10:g.8762313C>G | NCBI36 |
| NG_008797.2:g.16818C>G , LRG_329:g.16818C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.216C>G MANE Select | ENSP00000341940.2:p.Cys72Trp | |
| ENST00000343849.2:c.216C>G | ENSP00000341940.2:p.Cys72Trp | |
| ENST00000397368.2:c.216C>G | ENSP00000380525.2:p.Cys72Trp | |
| ENST00000472766.1:n.155+11637C>G | ||
| NM_001234.4:c.216C>G | NP_001225.1:p.Cys72Trp | |
| NM_033337.2:c.216C>G , LRG_329t1:c.216C>G | NP_203123.1:p.Cys72Trp | |
| NM_001234.5:c.216C>G | NP_001225.1:p.Cys72Trp | |
| NM_033337.3:c.216C>G MANE Select | NP_203123.1:p.Cys72Trp |