Linked Data
ClinVar Variation Id:
203612
ClinVar RCV Id:
RCV000674567
dbSNP Id:
rs759952363
ExAC:
7:65551632 G / C
gnomAD v2:
7-65551632-G-C
gnomAD v4:
7-66086645-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66086645G>C , CM000669.2:g.66086645G>C | GRCh38 |
| NC_000007.13:g.65551632G>C , CM000669.1:g.65551632G>C | GRCh37 |
| NC_000007.12:g.65189067G>C | NCBI36 |
| NG_009288.1:g.15857G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304874.14:c.507G>C MANE Select | ENSP00000307188.9:p.Trp169Cys | |
| ENST00000362000.10:c.312G>C | ENSP00000354710.6:p.Trp104Cys | |
| ENST00000380839.9:c.507G>C | ENSP00000370219.4:p.Trp169Cys | |
| ENST00000395331.4:c.507G>C | ENSP00000378740.3:p.Trp169Cys | |
| ENST00000395332.8:c.507G>C | ENSP00000378741.3:p.Trp169Cys | |
| ENST00000671817.1:c.507G>C | ENSP00000500462.1:p.Trp169Cys | |
| ENST00000672498.1:c.447-1084G>C | ENSP00000500227.1:n.447-1084G>C | |
| ENST00000672586.1:n.412G>C | ||
| ENST00000672676.1:n.677G>C | ||
| ENST00000673149.1:n.319G>C | ||
| ENST00000673350.1:n.755G>C | ||
| ENST00000673518.1:c.507G>C | ENSP00000499889.1:p.Trp169Cys | |
| ENST00000673594.1:n.356G>C | ||
| ENST00000304874.13:c.507G>C | ENSP00000307188.9:p.Trp169Cys | |
| ENST00000362000.9:c.312G>C | ENSP00000354710.5:p.Trp104Cys | |
| ENST00000380839.8:c.507G>C | ENSP00000370219.4:p.Trp169Cys | |
| ENST00000395331.3:c.507G>C | ENSP00000378740.3:p.Trp169Cys | |
| ENST00000395332.7:c.507G>C | ENSP00000378741.3:p.Trp169Cys | |
| ENST00000487982.5:n.573G>C | ||
| NM_000048.3:c.507G>C | NP_000039.2:p.Trp169Cys | |
| NM_001024943.1:c.507G>C | NP_001020114.1:p.Trp169Cys | |
| NM_001024944.1:c.507G>C | NP_001020115.1:p.Trp169Cys | |
| NM_001024946.1:c.507G>C | NP_001020117.1:p.Trp169Cys | |
| NM_000048.4:c.507G>C MANE Select | NP_000039.2:p.Trp169Cys | |
| NM_001024943.2:c.507G>C | NP_001020114.1:p.Trp169Cys | |
| NM_001024944.2:c.507G>C | NP_001020115.1:p.Trp169Cys | |
| NM_001024946.2:c.507G>C | NP_001020117.1:p.Trp169Cys |