Linked Data
ClinVar Variation Id:
2827762
ClinVar RCV Id:
RCV003747189
dbSNP Id:
rs1186188551
gnomAD v2:
5-131945051-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609359A>T , CM000667.2:g.132609359A>T | GRCh38 |
| NC_000005.9:g.131945051A>T , CM000667.1:g.131945051A>T | GRCh37 |
| NC_000005.8:g.131972950A>T | NCBI36 |
| NG_021151.1:g.57436A>T | |
| NG_021151.2:g.57383A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2999A>T MANE Select | ENSP00000368100.4:p.Asp1000Val | |
| ENST00000638452.2:c.2702A>T | ENSP00000492349.2:p.Asp901Val | |
| ENST00000638504.1:n.2607A>T | ||
| ENST00000638568.2:c.2702A>T | ENSP00000491158.2:p.Asp901Val | |
| ENST00000639899.1:n.3518A>T | ||
| ENST00000640655.2:c.2702A>T | ENSP00000491596.2:p.Asp901Val | |
| ENST00000651723.1:c.*3082A>T | ENSP00000498237.1:n.*3082A>T | |
| ENST00000378823.7:c.2999A>T | ENSP00000368100.4:p.Asp1000Val | |
| ENST00000533482.5:c.*2625A>T | ENSP00000431225.1:n.*2625A>T | |
| NM_005732.3:c.2999A>T | NP_005723.2:p.Asp1000Val | |
| NM_005732.4:c.2999A>T MANE Select | NP_005723.2:p.Asp1000Val |