Linked Data
ClinVar Variation Id:
225914
dbSNP Id:
rs376982466
ExAC:
15:45660402 C / T
gnomAD v2:
15-45660402-C-T
gnomAD v4:
15-45368204-C-T
PubMed:
PMID:27233232
ERepo:
CA7542902/MONDO:0012996/025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45368204C>T , CM000677.2:g.45368204C>T | GRCh38 |
| NC_000015.9:g.45660402C>T , CM000677.1:g.45660402C>T | GRCh37 |
| NC_000015.8:g.43447694C>T | NCBI36 |
| NG_011674.1:g.15579G>A | |
| NG_011674.2:g.39114G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.541G>A MANE Select | ENSP00000379895.3:p.Glu181Lys | |
| ENST00000674905.1:c.541G>A | ENSP00000502176.1:p.Glu181Lys | |
| ENST00000675158.1:c.541G>A | ENSP00000501737.1:p.Glu181Lys | |
| ENST00000675323.1:c.541G>A | ENSP00000502445.1:p.Glu181Lys | |
| ENST00000675701.1:c.481G>A | ENSP00000502671.1:p.Glu161Lys | |
| ENST00000675974.1:n.632G>A | ||
| ENST00000676090.1:c.*1272G>A | ENSP00000501630.1:n.*1272G>A | |
| ENST00000396659.7:c.541G>A | ENSP00000379895.3:p.Glu181Lys | |
| ENST00000558163.1:c.322G>A | ENSP00000453781.1:p.Glu108Lys | |
| ENST00000558336.5:c.541G>A | ENSP00000454008.1:p.Glu181Lys | |
| ENST00000558362.5:n.2197G>A | ||
| ENST00000558916.1:n.439G>A | ||
| NM_001482.2:c.541G>A | NP_001473.1:p.Glu181Lys | |
| XM_011521450.1:c.589G>A | XP_011519752.1:p.Glu197Lys | |
| XM_011521451.1:c.583G>A | XP_011519753.1:p.Glu195Lys | |
| NM_001321015.1:c.154G>A | NP_001307944.1:p.Glu52Lys | |
| NM_001482.3:c.541G>A MANE Select | NP_001473.1:p.Glu181Lys | |
| NM_001321015.2:c.154G>A | NP_001307944.1:p.Glu52Lys |