Linked Data
dbSNP Id:
rs12190966
gnomAD v2:
6-146146820-T-G
gnomAD v3:
6-145825684-T-G
gnomAD v4:
6-145825684-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.145825684T>G , CM000668.2:g.145825684T>G | GRCh38 |
| NC_000006.11:g.146146820T>G , CM000668.1:g.146146820T>G | GRCh37 |
| NC_000006.10:g.146188513T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_038244.1:n.557-2677T>G (EPM2A-DT) | ||
| NR_038245.1:n.557-2677T>G (EPM2A-DT) | ||
| NR_038246.1:n.53-2677T>G (EPM2A-DT) | ||
| XM_017011353.1:c.-16-19263A>C (FBXO30) | XP_016866842.1:n.-16-19263A>C |