Linked Data
ClinVar Variation Id:
225920
dbSNP Id:
rs142814307
gnomAD v2:
15-45657000-G-A
gnomAD v3:
15-45364802-G-A
gnomAD v4:
15-45364802-G-A
PubMed:
PMID:27233232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45364802G>A , CM000677.2:g.45364802G>A | GRCh38 |
| NC_000015.9:g.45657000G>A , CM000677.1:g.45657000G>A | GRCh37 |
| NC_000015.8:g.43444292G>A | NCBI36 |
| NG_011674.1:g.18981C>T | |
| NG_011674.2:g.42516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.1037C>T MANE Select | ENSP00000379895.3:p.Pro346Leu | |
| ENST00000674905.1:c.1037C>T | ENSP00000502176.1:p.Pro346Leu | |
| ENST00000675158.1:c.1037C>T | ENSP00000501737.1:p.Pro346Leu | |
| ENST00000675323.1:c.1037C>T | ENSP00000502445.1:p.Pro346Leu | |
| ENST00000675701.1:c.977C>T | ENSP00000502671.1:p.Pro326Leu | |
| ENST00000675974.1:n.1128C>T | ||
| ENST00000676090.1:c.*1768C>T | ENSP00000501630.1:n.*1768C>T | |
| ENST00000396659.7:c.1037C>T | ENSP00000379895.3:p.Pro346Leu | |
| ENST00000558336.5:c.1037C>T | ENSP00000454008.1:p.Pro346Leu | |
| ENST00000558362.5:n.2693C>T | ||
| ENST00000561376.1:n.84C>T | ||
| NM_001482.2:c.1037C>T | NP_001473.1:p.Pro346Leu | |
| XM_011521450.1:c.1085C>T | XP_011519752.1:p.Pro362Leu | |
| XM_011521451.1:c.1079C>T | XP_011519753.1:p.Pro360Leu | |
| NM_001321015.1:c.650C>T | NP_001307944.1:p.Pro217Leu | |
| NM_001482.3:c.1037C>T MANE Select | NP_001473.1:p.Pro346Leu | |
| NM_001321015.2:c.650C>T | NP_001307944.1:p.Pro217Leu |