Linked Data
ClinVar Variation Id:
6590
dbSNP Id:
rs11568372
ExAC:
2:169847329 T / C
gnomAD v2:
2-169847329-T-C
gnomAD v3:
2-168990819-T-C
gnomAD v4:
2-168990819-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168990819T>C , CM000664.2:g.168990819T>C | GRCh38 |
| NC_000002.11:g.169847329T>C , CM000664.1:g.169847329T>C | GRCh37 |
| NC_000002.10:g.169555575T>C | NCBI36 |
| NG_007374.1:g.45505A>G | |
| NG_007374.2:g.45578A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650372.1:c.890A>G MANE Select | ENSP00000497931.1:p.Glu297Gly | |
| ENST00000263817.6:c.890A>G | ENSP00000263817.6:p.Glu297Gly | |
| NM_003742.2:c.890A>G | NP_003733.2:p.Glu297Gly | |
| XM_006712817.2:c.932A>G | XP_006712880.1:p.Glu311Gly | |
| XM_011512077.1:c.992A>G | XP_011510379.1:p.Glu331Gly | |
| XM_011512078.1:c.992A>G | XP_011510380.1:p.Glu331Gly | |
| XM_011512079.1:c.992A>G | XP_011510381.1:p.Glu331Gly | |
| XM_011512080.1:c.992A>G | XP_011510382.1:p.Glu331Gly | |
| NM_003742.4:c.890A>G MANE Select | NP_003733.2:p.Glu297Gly | |
| XM_006712817.3:c.932A>G | XP_006712880.1:p.Glu311Gly | |
| XM_011512077.2:c.992A>G | XP_011510379.1:p.Glu331Gly | |
| XM_011512078.2:c.992A>G | XP_011510380.1:p.Glu331Gly | |
| XM_011512080.2:c.992A>G | XP_011510382.1:p.Glu331Gly | |
| XM_017005165.1:c.992A>G | XP_016860654.1:p.Glu331Gly | |
| XM_017005166.1:c.221A>G | XP_016860655.1:p.Glu74Gly |