Linked Data
ClinVar Variation Id:
2202663
ClinVar RCV Id:
RCV002664139
dbSNP Id:
rs1305717617
gnomAD v2:
11-64527291-T-C
gnomAD v3:
11-64759819-T-C
gnomAD v4:
11-64759819-T-C
MyVariant Identifiers:
chr11:g.64527291T>C (hg19)
chr11:g.64527291_64527293delinsCCA (hg19)
chr11:g.64759819T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64759819T>C , CM000673.2:g.64759819T>C | GRCh38 |
| NC_000011.9:g.64527291T>C , CM000673.1:g.64527291T>C | GRCh37 |
| NC_000011.8:g.64283867T>C | NCBI36 |
| NG_013018.1:g.5897A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.80A>G MANE Select | ENSP00000164139.3:p.Glu27Gly | |
| ENST00000164139.3:c.80A>G | ENSP00000164139.3:p.Glu27Gly | |
| ENST00000377432.7:c.80A>G | ENSP00000366650.3:p.Glu27Gly | |
| NM_001164716.1:c.80A>G | NP_001158188.1:p.Glu27Gly | |
| NM_005609.2:c.80A>G | NP_005600.1:p.Glu27Gly | |
| NM_005609.3:c.80A>G | NP_005600.1:p.Glu27Gly | |
| NM_005609.4:c.80A>G MANE Select | NP_005600.1:p.Glu27Gly |