dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75372992 (AFR)
Genomes Max Group AF
0.74583638 (AFR)
Exomes Max Group AF
0.75914976 (AFR)
MyVariant.info:
GRCh38
chr22:g.42142452G>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42142452G>A , CM000684.2:g.42142452G>A | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651010.1:n.2620+27C>T | ||
| ENST00000358097.8:c.667+27C>T | ENSP00000445124.1:n.667+27C>T | |
| ENST00000433992.2:c.667+27C>T | ENSP00000439604.1:n.667+27C>T | |
| ENST00000610593.4:n.752+27C>T | ||
| ENST00000612115.1:c.666+27C>T | ENSP00000484065.1:n.666+27C>T | |
| ENST00000614967.4:c.513+27C>T | ENSP00000481168.1:n.513+27C>T | |
| NR_002570.3:n.778+27C>T | ||
| NM_001348386.2:c.666+27C>T | NP_001335315.1:n.666+27C>T | |
| NR_002570.5:n.686+27C>T | ||
| NR_145674.2:n.686+27C>T | ||
| NM_001348386.3:c.666+27C>T | NP_001335315.1:n.666+27C>T | |
| NR_002570.6:n.686+27C>T | ||
| NR_145674.3:n.686+27C>T |