Linked Data
ClinVar Variation Id:
304706
dbSNP Id:
rs10769028
ExAC:
11:44297054 T / C
gnomAD v2:
11-44297054-T-C
gnomAD v3:
11-44275504-T-C
gnomAD v4:
11-44275504-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44275504T>C , CM000673.2:g.44275504T>C | GRCh38 |
| NC_000011.9:g.44297054T>C , CM000673.1:g.44297054T>C | GRCh37 |
| NC_000011.8:g.44253630T>C | NCBI36 |
| NG_015809.1:g.39663A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652299.1:c.621A>G MANE Select | ENSP00000498217.1:p.Ser207= | |
| ENST00000329255.3:c.621A>G | ENSP00000332744.3:p.Ser207= | |
| NM_021926.3:c.621A>G | NP_068745.2:p.Ser207= | |
| XM_011520264.1:c.621A>G | XP_011518566.1:p.Ser207= | |
| XM_011520265.1:c.99A>G | XP_011518567.1:p.Ser33= | |
| XM_011520266.1:c.99A>G | XP_011518568.1:p.Ser33= | |
| NM_021926.4:c.621A>G MANE Select | NP_068745.2:p.Ser207= |