gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70887497 (EAS)
Genomes Max Group AF
0.70887497 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159178723C>T , CM000663.2:g.159178723C>T | GRCh38 |
| NC_000001.10:g.159148513C>T , CM000663.1:g.159148513C>T | GRCh37 |
| NC_000001.9:g.157415137C>T | NCBI36 |
| NG_051933.1:g.12160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695582.1:n.33+9088G>A (AIM2) | ||
| ENST00000368125.9:c.88+6870C>T (CADM3) MANE Select | ENSP00000357107.4:n.88+6870C>T | |
| ENST00000368124.8:c.88+6870C>T (CADM3) | ENSP00000357106.4:n.88+6870C>T | |
| ENST00000368125.8:c.88+6870C>T (CADM3) | ENSP00000357107.4:n.88+6870C>T | |
| ENST00000416746.1:c.88+6870C>T (CADM3) | ENSP00000387802.1:n.88+6870C>T | |
| NM_001127173.1:c.88+6870C>T (CADM3) | NP_001120645.1:n.88+6870C>T | |
| NM_021189.3:c.88+6870C>T (CADM3) | NP_067012.1:n.88+6870C>T | |
| NM_001127173.2:c.88+6870C>T (CADM3) | NP_001120645.1:n.88+6870C>T | |
| NM_001346510.1:c.88+6870C>T (CADM3) | NP_001333439.1:n.88+6870C>T | |
| NM_021189.4:c.88+6870C>T (CADM3) | NP_067012.1:n.88+6870C>T | |
| XM_024448760.1:c.88+6870C>T (CADM3) | XP_024304528.1:n.88+6870C>T | |
| NM_001127173.3:c.88+6870C>T (CADM3) MANE Select | NP_001120645.1:n.88+6870C>T | |
| NM_001346510.2:c.88+6870C>T (CADM3) | NP_001333439.1:n.88+6870C>T | |
| NM_021189.5:c.88+6870C>T (CADM3) | NP_067012.1:n.88+6870C>T |