Linked Data
ClinVar Variation Id:
471929
ClinVar RCV Id:
RCV000526284
dbSNP Id:
rs1554121329
gnomAD v4:
6-35456059-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35456059A>G , CM000668.2:g.35456059A>G | GRCh38 |
| NC_000006.11:g.35423836A>G , CM000668.1:g.35423836A>G | GRCh37 |
| NC_000006.10:g.35531814A>G | NCBI36 |
| NG_011708.1:g.8699A>G , LRG_498:g.8699A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.561A>G | ENSP00000512511.1:p.Glu187= | |
| ENST00000696265.1:c.561A>G | ENSP00000512512.1:p.Glu187= | |
| ENST00000696266.1:c.279A>G | ENSP00000512513.1:p.Glu93= | |
| ENST00000696267.1:n.201A>G | ||
| ENST00000229769.3:c.561A>G MANE Select | ENSP00000229769.2:p.Glu187= | |
| ENST00000648059.1:c.561A>G | ENSP00000497902.1:p.Glu187= | |
| ENST00000229769.2:c.561A>G | ENSP00000229769.2:p.Glu187= | |
| NM_021922.2:c.561A>G , LRG_498t1:c.561A>G | NP_068741.1:p.Glu187= | |
| XM_005248885.2:c.561A>G | XP_005248942.1:p.Glu187= | |
| XM_005248886.2:c.561A>G | XP_005248943.1:p.Glu187= | |
| XM_005248887.2:c.561A>G | XP_005248944.1:p.Glu187= | |
| XM_005248888.2:c.561A>G | XP_005248945.1:p.Glu187= | |
| XM_011514343.1:c.267A>G | XP_011512645.1:p.Glu89= | |
| XM_011514344.1:c.267A>G | XP_011512646.1:p.Glu89= | |
| XM_005248888.3:c.561A>G | XP_005248945.1:p.Glu187= | |
| XM_011514343.2:c.267A>G | XP_011512645.1:p.Glu89= | |
| XR_001743226.1:n.768A>G | ||
| XR_002956267.1:n.768A>G | ||
| NM_021922.3:c.561A>G MANE Select | NP_068741.1:p.Glu187= |