ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004375 (AFR)
Genomes Max Group AF
0.0000192 (AFR)
Exomes Max Group AF
0.00003983 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188974528C>T , CM000664.2:g.188974528C>T | GRCh38 |
| NC_000002.11:g.189839254C>T , CM000664.1:g.189839254C>T | GRCh37 |
| NC_000002.10:g.189547499C>T | NCBI36 |
| NG_007404.1:g.5156C>T , LRG_3:g.5156C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.39C>T | ENSP00000415346.2:p.Leu13= | |
| ENST00000304636.9:c.39C>T MANE Select | ENSP00000304408.4:p.Leu13= | |
| ENST00000304636.7:c.39C>T | ENSP00000304408.3:p.Leu13= | |
| ENST00000317840.9:c.39C>T | ENSP00000315243.6:p.Leu13= | |
| ENST00000470167.1:n.135C>T | ||
| NM_000090.3:c.39C>T , LRG_3t1:c.39C>T | NP_000081.1:p.Leu13= | |
| XR_923687.1:n.1795-4049G>A | ||
| XR_923688.1:n.1795-4049G>A | ||
| XR_923689.1:n.90-4049G>A | ||
| XR_923689.3:n.85-4049G>A | ||
| NM_000090.4:c.39C>T MANE Select | NP_000081.2:p.Leu13= |