Linked Data
ClinVar Variation Id:
7302
ClinVar RCV Id:
RCV000007725
dbSNP Id:
rs80338737
gnomAD v4:
15-45369364-C-T
ERepo:
CA340668/MONDO:0012996/025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45369364C>T , CM000677.2:g.45369364C>T | GRCh38 |
| NC_000015.9:g.45661562C>T , CM000677.1:g.45661562C>T | GRCh37 |
| NC_000015.8:g.43448854C>T | NCBI36 |
| NG_011674.1:g.14419G>A | |
| NG_011674.2:g.37954G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.446G>A MANE Select | ENSP00000379895.3:p.Trp149Ter | |
| ENST00000674905.1:c.446G>A | ENSP00000502176.1:p.Trp149Ter | |
| ENST00000675158.1:c.446G>A | ENSP00000501737.1:p.Trp149Ter | |
| ENST00000675323.1:c.446G>A | ENSP00000502445.1:p.Trp149Ter | |
| ENST00000675701.1:c.386G>A | ENSP00000502671.1:p.Trp129Ter | |
| ENST00000675974.1:n.537G>A | ||
| ENST00000676090.1:c.*1177G>A | ENSP00000501630.1:n.*1177G>A | |
| ENST00000396659.7:c.446G>A | ENSP00000379895.3:p.Trp149Ter | |
| ENST00000558163.1:c.227G>A | ENSP00000453781.1:p.Trp76Ter | |
| ENST00000558336.5:c.446G>A | ENSP00000454008.1:p.Trp149Ter | |
| ENST00000558362.5:n.2102G>A | ||
| ENST00000558537.5:c.59G>A | ENSP00000453151.1:p.Trp20Ter | |
| ENST00000558916.1:n.344G>A | ||
| ENST00000561148.5:c.59G>A | ENSP00000453860.1:p.Trp20Ter | |
| NM_001482.2:c.446G>A | NP_001473.1:p.Trp149Ter | |
| XM_011521450.1:c.494G>A | XP_011519752.1:p.Trp165Ter | |
| XM_011521451.1:c.488G>A | XP_011519753.1:p.Trp163Ter | |
| NM_001321015.1:c.59G>A | NP_001307944.1:p.Trp20Ter | |
| NM_001482.3:c.446G>A MANE Select | NP_001473.1:p.Trp149Ter | |
| NM_001321015.2:c.59G>A | NP_001307944.1:p.Trp20Ter |