Linked Data
ClinVar Variation Id:
11803
ClinVar RCV Id:
RCV000012571
dbSNP Id:
rs151340627
PubMed:
PMID:9062355
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50086551G>A , CM000685.2:g.50086551G>A | GRCh38 |
| NC_000023.10:g.49851208G>A , CM000685.1:g.49851208G>A | GRCh37 |
| NC_000023.9:g.49737948G>A | NCBI36 |
| NG_007159.3:g.168936G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376091.8:c.1238G>A MANE Select | ENSP00000365259.3:p.Trp413Ter | |
| ENST00000642383.1:c.488G>A | ENSP00000496353.1:p.Trp163Ter | |
| ENST00000642885.1:c.1028G>A | ENSP00000496632.1:p.Trp343Ter | |
| ENST00000643129.1:c.1525G>A | ||
| ENST00000646398.1:c.*413G>A | ENSP00000495122.1:n.*413G>A | |
| ENST00000307367.2:c.1028G>A | ENSP00000304257.2:p.Trp343Ter | |
| ENST00000376088.7:c.1238G>A | ENSP00000365256.3:p.Trp413Ter | |
| ENST00000376091.7:c.1238G>A | ENSP00000365259.3:p.Trp413Ter | |
| ENST00000376108.7:c.1028G>A | ENSP00000365276.3:p.Trp343Ter | |
| NM_000084.4:c.1028G>A | NP_000075.1:p.Trp343Ter | |
| NM_001127898.3:c.1238G>A | NP_001121370.1:p.Trp413Ter | |
| NM_001127899.3:c.1238G>A | NP_001121371.1:p.Trp413Ter | |
| NM_001282163.1:c.1088G>A | NP_001269092.1:p.Trp363Ter | |
| XM_011543888.1:c.1238G>A | XP_011542190.1:p.Trp413Ter | |
| XM_011543889.1:c.1028G>A | XP_011542191.1:p.Trp343Ter | |
| XM_017029257.1:c.1250G>A | XP_016884746.1:p.Trp417Ter | |
| XM_017029258.1:c.1250G>A | XP_016884747.1:p.Trp417Ter | |
| NM_001127898.4:c.1238G>A MANE Select | NP_001121370.1:p.Trp413Ter | |
| NM_000084.5:c.1028G>A | NP_000075.1:p.Trp343Ter | |
| NM_001127899.4:c.1238G>A | NP_001121371.1:p.Trp413Ter | |
| NM_001282163.2:c.1088G>A | NP_001269092.1:p.Trp363Ter |