Linked Data
dbSNP Id:
rs751690272
ExAC:
10:131565311 A / G
gnomAD v2:
10-131565311-A-G
gnomAD v3:
10-129767047-A-G
gnomAD v4:
10-129767047-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129767047A>G , CM000672.2:g.129767047A>G | GRCh38 |
| NC_000010.10:g.131565311A>G , CM000672.1:g.131565311A>G | GRCh37 |
| NC_000010.9:g.131455301A>G | NCBI36 |
| NG_052673.1:g.304864A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.*50A>G | ENSP00000302111.7:n.*50A>G | |
| ENST00000651593.1:c.*50A>G MANE Select | ENSP00000498729.1:n.*50A>G | |
| ENST00000306010.7:c.*50A>G | ENSP00000302111.7:n.*50A>G | |
| NM_002412.3:c.*50A>G | NP_002403.2:n.*50A>G | |
| NM_002412.4:c.*50A>G | NP_002403.2:n.*50A>G | |
| XM_005252682.2:c.*50A>G | XP_005252739.1:n.*50A>G | |
| XM_006717863.2:c.*50A>G | XP_006717926.1:n.*50A>G | |
| XM_011539817.1:c.*50A>G | XP_011538119.1:n.*50A>G | |
| NM_002412.5:c.*50A>G MANE Select | NP_002403.3:n.*50A>G | |
| XM_017016275.1:c.*50A>G | XP_016871764.1:n.*50A>G |