gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001107 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23418221G>A , CM000676.2:g.23418221G>A | GRCh38 |
| NC_000014.8:g.23887430G>A , CM000676.1:g.23887430G>A | GRCh37 |
| NC_000014.7:g.22957270G>A | NCBI36 |
| NG_007884.1:g.22441C>T , LRG_384:g.22441C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4158C>T MANE Select | ENSP00000347507.3:p.Leu1386= | |
| ENST00000355349.3:c.4158C>T | ENSP00000347507.3:p.Leu1386= | |
| NM_000257.3:c.4158C>T | NP_000248.2:p.Leu1386= | |
| XM_017021340.1:c.4158C>T | XP_016876829.1:p.Leu1386= | |
| NM_000257.4:c.4158C>T MANE Select | NP_000248.2:p.Leu1386= |