Linked Data
dbSNP Id:
rs752397016
ExAC:
10:3823787 T / C
gnomAD v2:
10-3823787-T-C
gnomAD v4:
10-3781595-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.3781595T>C , CM000672.2:g.3781595T>C | GRCh38 |
| NC_000010.10:g.3823787T>C , CM000672.1:g.3823787T>C | GRCh37 |
| NC_000010.9:g.3813787T>C | NCBI36 |
| NG_012277.1:g.8687A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000497571.6:c.676+46A>G MANE Select | ENSP00000419923.1:n.676+46A>G | |
| ENST00000173785.4:n.257+200A>G | ||
| ENST00000469435.1:c.722A>G | ENSP00000419079.1:p.His241Arg | |
| ENST00000497571.5:c.676+46A>G | ENSP00000419923.1:n.676+46A>G | |
| ENST00000542957.1:c.676+46A>G | ENSP00000445301.1:n.676+46A>G | |
| NM_001160124.1:c.550+172A>G | NP_001153596.1:n.550+172A>G | |
| NM_001160125.1:c.676+46A>G | NP_001153597.1:n.676+46A>G | |
| NM_001300.5:c.676+46A>G | NP_001291.3:n.676+46A>G | |
| NR_027653.1:n.789+200A>G | ||
| NM_001300.6:c.676+46A>G MANE Select | NP_001291.3:n.676+46A>G | |
| NM_001160124.2:c.550+172A>G | NP_001153596.1:n.550+172A>G | |
| NR_027653.2:n.717+200A>G | ||
| NM_001160125.2:c.676+46A>G | NP_001153597.1:n.676+46A>G |