Linked Data
ClinVar Variation Id:
300674
dbSNP Id:
rs552578786
gnomAD v2:
10-73772727-A-G
gnomAD v3:
10-72012969-A-G
gnomAD v4:
10-72012969-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72012969A>G , CM000672.2:g.72012969A>G | GRCh38 |
| NC_000010.10:g.73772727A>G , CM000672.1:g.73772727A>G | GRCh37 |
| NC_000010.9:g.73442733A>G | NCBI36 |
| NG_012635.1:g.53608A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.*4498A>G MANE Select | ENSP00000362207.4:n.*4498A>G | |
| ENST00000373115.4:c.*4498A>G | ENSP00000362207.4:n.*4498A>G | |
| NM_004273.4:c.*4498A>G | NP_004264.2:n.*4498A>G | |
| XM_006718075.2:c.*4498A>G | XP_006718138.1:n.*4498A>G | |
| XM_011540369.1:c.*4498A>G | XP_011538671.1:n.*4498A>G | |
| XM_006718075.4:c.*4498A>G | XP_006718138.1:n.*4498A>G | |
| XM_011540369.2:c.*4498A>G | XP_011538671.1:n.*4498A>G | |
| NM_004273.5:c.*4498A>G MANE Select | NP_004264.2:n.*4498A>G |