Linked Data
ClinVar Variation Id:
11491
ClinVar RCV Id:
RCV000012246
dbSNP Id:
rs104894794
PubMed:
PMID:11038443
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48528351G>A , CM000685.2:g.48528351G>A | GRCh38 |
| NC_000023.10:g.48386739G>A , CM000685.1:g.48386739G>A | GRCh37 |
| NC_000023.9:g.48271683G>A | NCBI36 |
| NG_007452.1:g.11576G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000495186.6:c.587G>A MANE Select | ENSP00000417052.1:p.Trp196Ter | |
| ENST00000651615.1:c.469+1066G>A | ENSP00000498524.1:n.469+1066G>A | |
| ENST00000276096.10:n.545G>A | ||
| ENST00000495186.5:c.587G>A | ENSP00000417052.1:p.Trp196Ter | |
| ENST00000498425.1:n.708G>A | ||
| NM_006579.2:c.587G>A | NP_006570.1:p.Trp196Ter | |
| NM_006579.3:c.587G>A MANE Select | NP_006570.1:p.Trp196Ter |