dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38532948 (EAS)
Genomes Max Group AF
0.38532948 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150860514C>T , CM000667.2:g.150860514C>T | GRCh38 |
| NC_000005.9:g.150240076C>T , CM000667.1:g.150240076C>T | GRCh37 |
| NC_000005.8:g.150220269C>T | NCBI36 |
| NG_027809.2:g.18992C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520549.1:c.158+11860C>T | ||
| XM_011537641.1:c.531+11860C>T | XP_011535943.1:n.531+11860C>T | |
| NM_001346557.1:c.531+11860C>T | NP_001333486.1:n.531+11860C>T | |
| NM_001346557.2:c.531+11860C>T | NP_001333486.1:n.531+11860C>T | |
| NR_170598.1:n.1646+11860C>T |