Linked Data
ClinVar Variation Id:
2773481
ClinVar RCV Id:
RCV003592306
dbSNP Id:
rs1156319014
gnomAD v2:
11-2790082-A-G
gnomAD v4:
11-2768852-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2768852A>G , CM000673.2:g.2768852A>G | GRCh38 |
| NC_000011.9:g.2790082A>G , CM000673.1:g.2790082A>G | GRCh37 |
| NC_000011.8:g.2746658A>G | NCBI36 |
| NG_008935.1:g.328862A>G , LRG_287:g.328862A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1166A>G | ENSP00000434560.2:p.Glu389Gly | |
| ENST00000646564.2:c.983A>G | ENSP00000495806.2:p.Glu328Gly | |
| ENST00000155840.12:c.1523A>G MANE Select | ENSP00000155840.2:p.Glu508Gly | |
| ENST00000335475.6:c.1142A>G | ENSP00000334497.5:p.Glu381Gly | |
| ENST00000646564.1:c.629A>G | ENSP00000495806.1:p.Glu210Gly | |
| ENST00000155840.9:c.1523A>G | ENSP00000155840.2:p.Glu508Gly | |
| ENST00000335475.5:c.1142A>G | ENSP00000334497.5:p.Glu381Gly | |
| NM_000218.2:c.1523A>G , LRG_287t1:c.1523A>G | NP_000209.2:p.Glu508Gly | |
| NM_181798.1:c.1142A>G , LRG_287t2:c.1142A>G | NP_861463.1:p.Glu381Gly | |
| NM_000218.3:c.1523A>G MANE Select | NP_000209.2:p.Glu508Gly |