Linked Data
ClinVar Variation Id:
572390
ClinVar RCV Id:
RCV000693759
dbSNP Id:
rs1248814164
gnomAD v2:
5-131940566-A-G
gnomAD v3:
5-132604874-A-G
gnomAD v4:
5-132604874-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132604874A>G , CM000667.2:g.132604874A>G | GRCh38 |
| NC_000005.9:g.131940566A>G , CM000667.1:g.131940566A>G | GRCh37 |
| NC_000005.8:g.131968465A>G | NCBI36 |
| NG_021151.1:g.52951A>G | |
| NG_021151.2:g.52898A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2593A>G MANE Select | ENSP00000368100.4:p.Ser865Gly | |
| ENST00000638452.2:c.2296A>G | ENSP00000492349.2:p.Ser766Gly | |
| ENST00000638504.1:n.2201A>G | ||
| ENST00000638568.2:c.2296A>G | ENSP00000491158.2:p.Ser766Gly | |
| ENST00000639899.1:n.3112A>G | ||
| ENST00000640655.2:c.2296A>G | ENSP00000491596.2:p.Ser766Gly | |
| ENST00000651160.1:c.*737A>G | ENSP00000498829.1:n.*737A>G | |
| ENST00000651723.1:c.*2676A>G | ENSP00000498237.1:n.*2676A>G | |
| ENST00000652016.1:c.*810A>G | ENSP00000498267.1:n.*810A>G | |
| ENST00000652485.1:c.2626A>G | ENSP00000498973.1:p.Ser876Gly | |
| ENST00000378823.7:c.2593A>G | ENSP00000368100.4:p.Ser865Gly | |
| ENST00000423956.5:c.*779A>G | ENSP00000390971.1:n.*779A>G | |
| ENST00000533482.5:c.*2219A>G | ENSP00000431225.1:n.*2219A>G | |
| NM_005732.3:c.2593A>G | NP_005723.2:p.Ser865Gly | |
| NM_005732.4:c.2593A>G MANE Select | NP_005723.2:p.Ser865Gly |