Linked Data
ClinVar Variation Id:
1546888
ClinVar RCV Id:
RCV002173184
dbSNP Id:
rs1489540204
gnomAD v2:
10-73767650-C-G
gnomAD v4:
10-72007892-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72007892C>G , CM000672.2:g.72007892C>G | GRCh38 |
| NC_000010.10:g.73767650C>G , CM000672.1:g.73767650C>G | GRCh37 |
| NC_000010.9:g.73437656C>G | NCBI36 |
| NG_012635.1:g.48531C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.861C>G MANE Select | ENSP00000362207.4:p.Ala287= | |
| ENST00000373115.4:c.861C>G | ENSP00000362207.4:p.Ala287= | |
| NM_004273.4:c.861C>G | NP_004264.2:p.Ala287= | |
| XM_006718075.2:c.861C>G | XP_006718138.1:p.Ala287= | |
| XM_011540369.1:c.861C>G | XP_011538671.1:p.Ala287= | |
| XM_006718075.4:c.861C>G | XP_006718138.1:p.Ala287= | |
| XM_011540369.2:c.861C>G | XP_011538671.1:p.Ala287= | |
| NM_004273.5:c.861C>G MANE Select | NP_004264.2:p.Ala287= |