ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00337296 (SAS)
Genomes Max Group AF
0.00308921 (SAS)
Exomes Max Group AF
0.00331355 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4095414G>A , CM000681.2:g.4095414G>A | GRCh38 |
| NC_000019.9:g.4095412G>A , CM000681.1:g.4095412G>A | GRCh37 |
| NC_000019.8:g.4046412G>A | NCBI36 |
| NG_007996.1:g.33715C>T , LRG_750:g.33715C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1459C>T | ||
| ENST00000688002.1:n.3171C>T | ||
| ENST00000688751.1:n.156C>T | ||
| ENST00000689792.1:n.924C>T | ||
| ENST00000262948.10:c.1020C>T MANE Select | ENSP00000262948.4:p.Pro340= | |
| ENST00000262948.9:c.1020C>T | ENSP00000262948.3:p.Pro340= | |
| ENST00000394867.8:c.729C>T | ENSP00000378336.1:p.Pro243= | |
| ENST00000595715.1:n.835C>T | ||
| ENST00000597263.5:n.205C>T | ||
| ENST00000599021.1:c.130C>T | ||
| ENST00000600584.5:n.1580C>T | ||
| ENST00000601786.5:n.1321C>T | ||
| NM_030662.3:c.1020C>T , LRG_750t1:c.1020C>T | NP_109587.1:p.Pro340= | |
| XM_006722799.2:c.741C>T | XP_006722862.1:p.Pro247= | |
| XM_011528133.1:c.450C>T | XP_011526435.1:p.Pro150= | |
| XM_017026989.1:c.1020C>T | XP_016882478.1:p.Pro340= | |
| XM_017026990.1:c.741C>T | XP_016882479.1:p.Pro247= | |
| NM_030662.4:c.1020C>T MANE Select | NP_109587.1:p.Pro340= |