dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09424909 (AMR)
Genomes Max Group AF
0.07545832 (AMR)
Exomes Max Group AF
0.10074241 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42143726G>A , CM000684.2:g.42143726G>A | GRCh38 |
| NC_000022.10:g.42539727G>A , CM000684.1:g.42539727G>A | GRCh37 |
| NC_000022.9:g.40869671G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651010.1:n.1990C>T | ||
| ENST00000358097.8:c.182-145C>T | ENSP00000445124.1:n.182-145C>T | |
| ENST00000424775.1:n.257+17C>T | ||
| ENST00000433992.2:c.182-145C>T | ENSP00000439604.1:n.182-145C>T | |
| ENST00000435688.1:n.267-145C>T | ||
| ENST00000610593.4:n.267-145C>T | ||
| ENST00000612115.1:c.181-145C>T | ENSP00000484065.1:n.181-145C>T | |
| ENST00000614967.4:c.181-145C>T | ENSP00000481168.1:n.181-145C>T | |
| NR_002570.3:n.293-145C>T | ||
| NM_001348386.2:c.181-145C>T | NP_001335315.1:n.181-145C>T | |
| NR_002570.5:n.201-145C>T | ||
| NR_145674.2:n.201-145C>T | ||
| NM_001348386.3:c.181-145C>T | NP_001335315.1:n.181-145C>T | |
| NR_002570.6:n.201-145C>T | ||
| NR_145674.3:n.201-145C>T |