Linked Data
ClinVar Variation Id:
132107
ClinVar RCV Id:
RCV000118986
dbSNP Id:
rs515726182
PubMed:
PMID:24741716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102232163A>G , CM000670.2:g.102232163A>G | GRCh38 |
| NC_000008.10:g.103244391A>G , CM000670.1:g.103244391A>G | GRCh37 |
| NC_000008.9:g.103313567A>G | NCBI36 |
| NG_016617.1:g.11956T>C , LRG_788:g.11956T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251810.8:c.190T>C MANE Select | ENSP00000251810.3:p.Trp64Arg | |
| ENST00000251810.7:c.190T>C | ENSP00000251810.3:p.Trp64Arg | |
| ENST00000395912.6:c.49-6129T>C | ENSP00000379248.2:n.49-6129T>C | |
| ENST00000517517.1:n.499T>C | ||
| ENST00000519317.5:c.48+6664T>C | ENSP00000430641.1:n.48+6664T>C | |
| ENST00000519962.5:c.48+6664T>C | ENSP00000429140.1:n.48+6664T>C | |
| ENST00000522368.5:c.359T>C | ||
| ENST00000522394.1:c.122+68T>C | ENSP00000429578.1:n.122+68T>C | |
| ENST00000523957.1:c.*113T>C | ENSP00000427830.1:n.*113T>C | |
| ENST00000621845.1:c.28T>C | ENSP00000484318.1:p.Trp10Arg | |
| NM_001172477.1:c.406T>C , LRG_788t1:c.406T>C | NP_001165948.1:p.Trp136Arg | |
| NM_001172478.1:c.49-6129T>C | NP_001165949.1:n.49-6129T>C | |
| NM_015713.4:c.190T>C , LRG_788t2:c.190T>C | NP_056528.2:p.Trp64Arg | |
| NM_001172478.2:c.49-6129T>C | NP_001165949.1:n.49-6129T>C | |
| NM_015713.5:c.190T>C MANE Select | NP_056528.2:p.Trp64Arg |