gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52821652 (EAS)
Genomes Max Group AF
0.56832512 (EAS)
Exomes Max Group AF
0.52115281 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102869708T>G , CM000672.2:g.102869708T>G | GRCh38 |
| NC_000010.10:g.104629465T>G , CM000672.1:g.104629465T>G | GRCh37 |
| NC_000010.9:g.104619455T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369880.8:c.2-97T>G (AS3MT) MANE Select | ENSP00000358896.3:n.2-97T>G | |
| ENST00000299353.6:c.*9-97T>G (BORCS7-ASMT) | ENSP00000299353.5:n.*9-97T>G | |
| ENST00000369880.7:c.2-97T>G (AS3MT) | ENSP00000358896.3:n.2-97T>G | |
| ENST00000615257.1:c.2-97T>G (AS3MT) | ENSP00000479361.1:n.2-97T>G | |
| NM_020682.3:c.2-97T>G (AS3MT) | NP_065733.2:n.2-97T>G | |
| NR_037644.1:n.407-97T>G (BORCS7-ASMT) | ||
| NM_020682.4:c.2-97T>G (AS3MT) MANE Select | NP_065733.2:n.2-97T>G |