Linked Data
ClinVar Variation Id:
4357
ClinVar RCV Id:
RCV000004605
dbSNP Id:
rs119476045
gnomAD v4:
1-231370589-T-C
COSMIC:
COSM6358007
PubMed:
PMID:19092153
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231370589T>C , CM000663.2:g.231370589T>C | GRCh38 |
| NC_000001.10:g.231506335T>C , CM000663.1:g.231506335T>C | GRCh37 |
| NC_000001.9:g.229572958T>C | NCBI36 |
| NG_015865.1:g.59456A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366641.4:c.1121A>G MANE Select | ENSP00000355601.3:p.His374Arg | |
| ENST00000476717.2:n.398A>G | ||
| ENST00000653198.1:n.663A>G | ||
| ENST00000653908.1:c.151-2953A>G | ENSP00000499669.1:n.151-2953A>G | |
| ENST00000654803.1:c.343A>G | ||
| ENST00000658954.1:c.495A>G | ||
| ENST00000662216.1:c.260A>G | ENSP00000499467.1:p.His87Arg | |
| ENST00000663780.1:n.221A>G | ||
| ENST00000667629.1:c.316-2953A>G | ENSP00000499629.1:n.316-2953A>G | |
| ENST00000670301.1:c.230-4114A>G | ||
| ENST00000366641.3:c.1121A>G | ENSP00000355601.3:p.His374Arg | |
| ENST00000476717.1:n.398A>G | ||
| NM_022051.2:c.1121A>G | NP_071334.1:p.His374Arg | |
| XM_005273166.3:c.1121A>G | XP_005273223.1:p.His374Arg | |
| XM_005273167.3:c.1012-2953A>G | XP_005273224.1:n.1012-2953A>G | |
| XM_005273166.5:c.1121A>G | XP_005273223.1:p.His374Arg | |
| XM_005273167.5:c.1012-2953A>G | XP_005273224.1:n.1012-2953A>G | |
| XM_024447734.1:c.1012-2953A>G | XP_024303502.1:n.1012-2953A>G | |
| NM_001377260.1:c.1121A>G | NP_001364189.1:p.His374Arg | |
| NM_001377261.1:c.1012-2953A>G | NP_001364190.1:n.1012-2953A>G | |
| NM_022051.3:c.1121A>G MANE Select | NP_071334.1:p.His374Arg |