Linked Data
ClinVar Variation Id:
300311
dbSNP Id:
rs886047105
gnomAD v2:
10-72195730-A-G
gnomAD v4:
10-70435974-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70435974A>G , CM000672.2:g.70435974A>G | GRCh38 |
| NC_000010.10:g.72195730A>G , CM000672.1:g.72195730A>G | GRCh37 |
| NC_000010.9:g.71865736A>G | NCBI36 |
| NG_012448.1:g.10736T>C | |
| NG_012448.2:g.16975T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287139.8:c.203T>C MANE Select | ENSP00000287139.3:p.Val68Ala | |
| ENST00000287139.7:c.203T>C | ENSP00000287139.3:p.Val68Ala | |
| ENST00000414871.1:c.38T>C | ENSP00000394468.1:p.Val13Ala | |
| NM_018055.4:c.203T>C | NP_060525.3:p.Val68Ala | |
| NM_001329906.1:c.-197T>C | NP_001316835.1:n.-197T>C | |
| XM_024448028.1:c.-197T>C | XP_024303796.1:n.-197T>C | |
| NM_018055.5:c.203T>C MANE Select | NP_060525.3:p.Val68Ala | |
| NM_001329906.2:c.-197T>C | NP_001316835.1:n.-197T>C |