gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000058 (MID)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00006094 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193203833C>T , CM000663.2:g.193203833C>T | GRCh38 |
| NC_000001.10:g.193172963C>T , CM000663.1:g.193172963C>T | GRCh37 |
| NC_000001.9:g.191439586C>T | NCBI36 |
| NG_012691.1:g.86876C>T , LRG_507:g.86876C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1011C>T MANE Select | ENSP00000356405.4:p.Ala337= | |
| ENST00000635846.1:c.768C>T | ENSP00000490035.1:p.Ala256= | |
| ENST00000643006.1:c.1079C>T | ENSP00000496633.1:p.Pro360Leu | |
| ENST00000648071.1:c.*987C>T | ENSP00000497513.1:n.*987C>T | |
| ENST00000649613.1:n.261C>T | ||
| ENST00000649895.1:n.1229C>T | ||
| ENST00000650197.1:c.1011C>T | ENSP00000496929.1:p.Ala337= | |
| ENST00000367435.3:c.1011C>T | ENSP00000356405.3:p.Ala337= | |
| NM_024529.4:c.1011C>T , LRG_507t1:c.1011C>T | NP_078805.3:p.Ala337= | |
| NM_024529.5:c.1011C>T MANE Select | NP_078805.3:p.Ala337= |