MyVariant.info:
GRCh38
chr22:g.42142247C>A
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002848 (NFE)
Genomes Max Group AF
0.00002848 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42142247C>A , CM000684.2:g.42142247C>A | GRCh38 |
| NC_000022.10:g.42538257C>A , CM000684.1:g.42538257C>A | GRCh37 |
| NC_000022.9:g.40868201C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651010.1:n.2621-203G>T | ||
| ENST00000358097.8:c.668-203G>T | ENSP00000445124.1:n.668-203G>T | |
| ENST00000433992.2:c.668-203G>T | ENSP00000439604.1:n.668-203G>T | |
| ENST00000610593.4:n.753-203G>T | ||
| ENST00000612115.1:c.667-203G>T | ENSP00000484065.1:n.667-203G>T | |
| ENST00000614967.4:c.514-203G>T | ENSP00000481168.1:n.514-203G>T | |
| NR_002570.3:n.779-203G>T | ||
| NM_001348386.2:c.667-203G>T | NP_001335315.1:n.667-203G>T | |
| NR_002570.5:n.687-203G>T | ||
| NR_145674.2:n.687-203G>T | ||
| NM_001348386.3:c.667-203G>T | NP_001335315.1:n.667-203G>T | |
| NR_002570.6:n.687-203G>T | ||
| NR_145674.3:n.687-203G>T |