Linked Data
ClinVar Variation Id:
297991
dbSNP Id:
rs1805134
ExAC:
1:66067109 T / C
gnomAD v2:
1-66067109-T-C
gnomAD v3:
1-65601426-T-C
gnomAD v4:
1-65601426-T-C
PubMed:
PMID:11380591
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65601426T>C , CM000663.2:g.65601426T>C | GRCh38 |
| NC_000001.10:g.66067109T>C , CM000663.1:g.66067109T>C | GRCh37 |
| NC_000001.9:g.65839697T>C | NCBI36 |
| NG_015831.2:g.185862T>C , LRG_283:g.185862T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349533.11:c.1029T>C MANE Select | ENSP00000330393.7:p.Ser343= | |
| ENST00000344610.12:c.1029T>C | ENSP00000340884.8:p.Ser343= | |
| ENST00000349533.10:c.1029T>C | ENSP00000330393.6:p.Ser343= | |
| ENST00000371058.1:c.1029T>C | ENSP00000360097.1:p.Ser343= | |
| ENST00000371059.7:c.1029T>C | ENSP00000360098.3:p.Ser343= | |
| ENST00000371060.7:c.1029T>C | ENSP00000360099.3:p.Ser343= | |
| ENST00000406510.7:c.-127+28977T>C | ENSP00000384025.3:n.-127+28977T>C | |
| ENST00000462765.5:n.1179T>C | ||
| ENST00000616738.4:c.1029T>C | ENSP00000483390.1:p.Ser343= | |
| NM_001003679.3:c.1029T>C , LRG_283t1:c.1029T>C | NP_001003679.1:p.Ser343= | |
| NM_001003680.3:c.1029T>C , LRG_283t2:c.1029T>C | NP_001003680.1:p.Ser343= | |
| NM_001198687.1:c.1029T>C | NP_001185616.1:p.Ser343= | |
| NM_001198688.1:c.1029T>C , LRG_283t4:c.1029T>C | NP_001185617.1:p.Ser343= | |
| NM_001198689.1:c.1029T>C | NP_001185618.1:p.Ser343= | |
| NM_002303.5:c.1029T>C , LRG_283t3:c.1029T>C | NP_002294.2:p.Ser343= | |
| NM_001198687.2:c.1029T>C | NP_001185616.1:p.Ser343= | |
| NM_002303.6:c.1029T>C MANE Select | NP_002294.2:p.Ser343= | |
| NM_001198689.2:c.1029T>C | NP_001185618.1:p.Ser343= |