Linked Data
ClinVar Variation Id:
2201
ClinVar RCV Id:
RCV000002285
dbSNP Id:
rs121434383
gnomAD v4:
15-90999963-G-A
PubMed:
PMID:15052268
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90999963G>A , CM000677.2:g.90999963G>A | GRCh38 |
| NC_000015.9:g.91543193G>A , CM000677.1:g.91543193G>A | GRCh37 |
| NC_000015.8:g.89344197G>A | NCBI36 |
| NG_012162.1:g.27641C>T , LRG_884:g.27641C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333371.8:c.1594C>T MANE Select | ENSP00000327650.4:p.Arg532Ter | |
| ENST00000643536.1:c.1594C>T | ENSP00000494429.1:p.Arg532Ter | |
| ENST00000647331.1:c.1594C>T | ENSP00000493953.1:p.Arg532Ter | |
| ENST00000333371.7:c.1594C>T | ENSP00000327650.3:p.Arg532Ter | |
| ENST00000535906.1:c.1513C>T | ENSP00000444053.1:p.Arg505Ter | |
| ENST00000554660.1:n.529C>T | ||
| ENST00000557470.5:n.147+527C>T | ||
| ENST00000574755.5:c.*1289C>T | ENSP00000460413.1:n.*1289C>T | |
| NM_001289148.1:c.1513C>T | NP_001276077.1:p.Arg505Ter | |
| NM_001289149.1:c.1321C>T | NP_001276078.1:p.Arg441Ter | |
| NM_018668.4:c.1594C>T , LRG_884t1:c.1594C>T | NP_061138.3:p.Arg532Ter | |
| XM_005254884.2:c.1516C>T | XP_005254941.1:p.Arg506Ter | |
| XM_005254887.1:c.1321C>T | XP_005254944.1:p.Arg441Ter | |
| XM_011521448.1:c.1321C>T | XP_011519750.1:p.Arg441Ter | |
| XM_011521449.1:c.1270C>T | XP_011519751.1:p.Arg424Ter | |
| XM_011521449.2:c.1270C>T | XP_011519751.1:p.Arg424Ter | |
| XM_017022075.2:c.1249C>T | XP_016877564.1:p.Arg417Ter | |
| XM_017022076.1:c.1249C>T | XP_016877565.1:p.Arg417Ter | |
| XR_001751213.2:n.2092C>T | ||
| NM_018668.5:c.1594C>T MANE Select | NP_061138.3:p.Arg532Ter |