Linked Data
ClinVar Variation Id:
7572
ClinVar RCV Id:
RCV000008008
dbSNP Id:
rs121909142
gnomAD v4:
10-3782127-A-G
PubMed:
PMID:11752579
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.3782127A>G , CM000672.2:g.3782127A>G | GRCh38 |
| NC_000010.10:g.3824319A>G , CM000672.1:g.3824319A>G | GRCh37 |
| NC_000010.9:g.3814319A>G | NCBI36 |
| NG_012277.1:g.8155T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000497571.6:c.190T>C MANE Select | ENSP00000419923.1:p.Trp64Arg | |
| ENST00000380946.3:n.425T>C | ||
| ENST00000469435.1:c.190T>C | ENSP00000419079.1:p.Trp64Arg | |
| ENST00000497571.5:c.190T>C | ENSP00000419923.1:p.Trp64Arg | |
| ENST00000542957.1:c.190T>C | ENSP00000445301.1:p.Trp64Arg | |
| NM_001160124.1:c.190T>C | NP_001153596.1:p.Trp64Arg | |
| NM_001160125.1:c.190T>C | NP_001153597.1:p.Trp64Arg | |
| NM_001300.5:c.190T>C | NP_001291.3:p.Trp64Arg | |
| NR_027653.1:n.457T>C | ||
| NM_001300.6:c.190T>C MANE Select | NP_001291.3:p.Trp64Arg | |
| NM_001160124.2:c.190T>C | NP_001153596.1:p.Trp64Arg | |
| NR_027653.2:n.385T>C | ||
| NM_001160125.2:c.190T>C | NP_001153597.1:p.Trp64Arg |