Linked Data
ClinVar Variation Id:
451078
ClinVar RCV Id:
RCV000523656
dbSNP Id:
rs138926430
ExAC:
4:68619865 C / G
gnomAD v2:
4-68619865-C-G
gnomAD v3:
4-67754147-C-G
gnomAD v4:
4-67754147-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754147C>G , CM000666.2:g.67754147C>G | GRCh38 |
| NC_000004.11:g.68619865C>G , CM000666.1:g.68619865C>G | GRCh37 |
| NC_000004.10:g.68302460C>G | NCBI36 |
| NG_009293.1:g.6940G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.189G>C MANE Select | ENSP00000226413.5:p.Trp63Cys | |
| ENST00000226413.4:c.189G>C | ENSP00000226413.4:p.Trp63Cys | |
| ENST00000420975.2:c.189G>C | ENSP00000397561.2:p.Trp63Cys | |
| NM_000406.2:c.189G>C | NP_000397.1:p.Trp63Cys | |
| NM_001012763.1:c.189G>C | NP_001012781.1:p.Trp63Cys | |
| NM_000406.3:c.189G>C MANE Select | NP_000397.1:p.Trp63Cys | |
| NM_001012763.2:c.189G>C | NP_001012781.1:p.Trp63Cys |