gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00374228 (SAS)
Genomes Max Group AF
0.0041957 (NFE)
Exomes Max Group AF
0.00372943 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169518448C>T , CM000663.2:g.169518448C>T | GRCh38 |
| NC_000001.10:g.169487686C>T , CM000663.1:g.169487686C>T | GRCh37 |
| NC_000001.9:g.167754310C>T | NCBI36 |
| NG_011806.1:g.73084G>A , LRG_553:g.73084G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.6309G>A MANE Select | ENSP00000356771.3:p.Leu2103= | |
| ENST00000367796.3:c.6324G>A | ENSP00000356770.3:p.Leu2108= | |
| ENST00000367797.7:c.6309G>A | ENSP00000356771.3:p.Leu2103= | |
| NM_000130.4:c.6309G>A , LRG_553t1:c.6309G>A | NP_000121.2:p.Leu2103= | |
| XM_017000660.2:c.5898G>A | XP_016856149.1:p.Leu1966= | |
| NM_000130.5:c.6309G>A MANE Select | NP_000121.2:p.Leu2103= |