Linked Data
ClinVar Variation Id:
55919
dbSNP Id:
rs397514708
ExAC:
15:45660438 G / A
gnomAD v2:
15-45660438-G-A
gnomAD v3:
15-45368240-G-A
gnomAD v4:
15-45368240-G-A
ERepo:
CA263242/MONDO:0012996/025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45368240G>A , CM000677.2:g.45368240G>A | GRCh38 |
| NC_000015.9:g.45660438G>A , CM000677.1:g.45660438G>A | GRCh37 |
| NC_000015.8:g.43447730G>A | NCBI36 |
| NG_011674.1:g.15543C>T | |
| NG_011674.2:g.39078C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.505C>T MANE Select | ENSP00000379895.3:p.Arg169Ter | |
| ENST00000674905.1:c.505C>T | ENSP00000502176.1:p.Arg169Ter | |
| ENST00000675158.1:c.505C>T | ENSP00000501737.1:p.Arg169Ter | |
| ENST00000675323.1:c.505C>T | ENSP00000502445.1:p.Arg169Ter | |
| ENST00000675701.1:c.445C>T | ENSP00000502671.1:p.Arg149Ter | |
| ENST00000675974.1:n.596C>T | ||
| ENST00000676090.1:c.*1236C>T | ENSP00000501630.1:n.*1236C>T | |
| ENST00000396659.7:c.505C>T | ENSP00000379895.3:p.Arg169Ter | |
| ENST00000558163.1:c.286C>T | ENSP00000453781.1:p.Arg96Ter | |
| ENST00000558336.5:c.505C>T | ENSP00000454008.1:p.Arg169Ter | |
| ENST00000558362.5:n.2161C>T | ||
| ENST00000558916.1:n.403C>T | ||
| NM_001482.2:c.505C>T | NP_001473.1:p.Arg169Ter | |
| XM_011521450.1:c.553C>T | XP_011519752.1:p.Arg185Ter | |
| XM_011521451.1:c.547C>T | XP_011519753.1:p.Arg183Ter | |
| NM_001321015.1:c.118C>T | NP_001307944.1:p.Arg40Ter | |
| NM_001482.3:c.505C>T MANE Select | NP_001473.1:p.Arg169Ter | |
| NM_001321015.2:c.118C>T | NP_001307944.1:p.Arg40Ter |