gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00094518 (AMR)
Genomes Max Group AF
0.00017009 (AMR)
Exomes Max Group AF
0.00115557 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50182601G>A , CM000676.2:g.50182601G>A | GRCh38 |
| NC_000014.8:g.50649319G>A , CM000676.1:g.50649319G>A | GRCh37 |
| NC_000014.7:g.49719069G>A | NCBI36 |
| NG_051073.1:g.54093C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.720C>T MANE Select | ENSP00000216373.5:p.Ile240= | |
| ENST00000216373.9:c.720C>T | ENSP00000216373.5:p.Ile240= | |
| ENST00000543680.5:c.720C>T | ENSP00000445328.1:p.Ile240= | |
| ENST00000556469.5:n.487C>T | ||
| NM_006939.2:c.720C>T | NP_008870.2:p.Ile240= | |
| XM_005268021.1:c.540C>T | XP_005268078.1:p.Ile180= | |
| XM_011537103.1:c.681C>T | XP_011535405.1:p.Ile227= | |
| XM_011537104.1:c.720C>T | XP_011535406.1:p.Ile240= | |
| XR_943842.1:n.954-1186G>A | ||
| XR_943843.1:n.954-1186G>A | ||
| NM_006939.3:c.720C>T | NP_008870.2:p.Ile240= | |
| NM_006939.4:c.720C>T MANE Select | NP_008870.2:p.Ile240= |