Linked Data
ClinVar Variation Id:
1470900
ClinVar RCV Id:
RCV001973387
dbSNP Id:
rs1484655136
gnomAD v3:
5-132609129-A-G
gnomAD v4:
5-132609129-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609129A>G , CM000667.2:g.132609129A>G | GRCh38 |
| NC_000005.9:g.131944821A>G , CM000667.1:g.131944821A>G | GRCh37 |
| NC_000005.8:g.131972720A>G | NCBI36 |
| NG_021151.1:g.57206A>G | |
| NG_021151.2:g.57153A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2842A>G MANE Select | ENSP00000368100.4:p.Lys948Glu | |
| ENST00000638452.2:c.2545A>G | ENSP00000492349.2:p.Lys849Glu | |
| ENST00000638504.1:n.2450A>G | ||
| ENST00000638568.2:c.2545A>G | ENSP00000491158.2:p.Lys849Glu | |
| ENST00000639899.1:n.3361A>G | ||
| ENST00000640655.2:c.2545A>G | ENSP00000491596.2:p.Lys849Glu | |
| ENST00000651160.1:c.*986A>G | ENSP00000498829.1:n.*986A>G | |
| ENST00000651723.1:c.*2925A>G | ENSP00000498237.1:n.*2925A>G | |
| ENST00000378823.7:c.2842A>G | ENSP00000368100.4:p.Lys948Glu | |
| ENST00000423956.5:c.*1028A>G | ENSP00000390971.1:n.*1028A>G | |
| ENST00000533482.5:c.*2468A>G | ENSP00000431225.1:n.*2468A>G | |
| NM_005732.3:c.2842A>G | NP_005723.2:p.Lys948Glu | |
| NM_005732.4:c.2842A>G MANE Select | NP_005723.2:p.Lys948Glu |