Linked Data
ClinVar Variation Id:
1268289
ClinVar RCV Id:
RCV001685615
dbSNP Id:
rs4745
ExAC:
1:155106227 A / T
gnomAD v2:
1-155106227-A-T
gnomAD v3:
1-155133751-A-T
gnomAD v4:
1-155133751-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155133751A>T , CM000663.2:g.155133751A>T | GRCh38 |
| NC_000001.10:g.155106227A>T , CM000663.1:g.155106227A>T | GRCh37 |
| NC_000001.9:g.153372851A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368407.8:c.476A>T MANE Select | ENSP00000357392.3:p.Asp159Val | |
| ENST00000368406.2:c.410A>T | ENSP00000357391.2:p.Asp137Val | |
| ENST00000368407.7:c.476A>T | ENSP00000357392.3:p.Asp159Val | |
| ENST00000469878.5:n.727A>T | ||
| ENST00000474413.5:n.701A>T | ||
| ENST00000497282.1:n.519A>T | ||
| NM_004428.2:c.476A>T | NP_004419.2:p.Asp159Val | |
| NM_182685.1:c.410A>T | NP_872626.1:p.Asp137Val | |
| XM_005244940.3:c.287A>T | XP_005244997.1:p.Asp96Val | |
| NM_004428.3:c.476A>T MANE Select | NP_004419.2:p.Asp159Val | |
| NM_182685.2:c.410A>T | NP_872626.1:p.Asp137Val |