ClinGen Classification:
Classification
Likely Benign
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00006369 (AMR)
Exomes Max Group AF
0.00009071 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792321C>T , CM000683.2:g.34792321C>T | GRCh38 |
| NC_000021.8:g.36164618C>T , CM000683.1:g.36164618C>T | GRCh37 |
| NC_000021.7:g.35086488C>T | NCBI36 |
| NG_011402.2:g.1197391G>A , LRG_482:g.1197391G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1257G>A MANE Select | ENSP00000501943.1:p.Val419= | |
| ENST00000300305.7:c.1257G>A | ENSP00000300305.3:p.Val419= | |
| ENST00000344691.8:c.1176G>A | ENSP00000340690.4:p.Val392= | |
| ENST00000399240.5:c.984G>A | ENSP00000382184.1:p.Val328= | |
| ENST00000437180.5:c.1257G>A | ENSP00000409227.1:p.Val419= | |
| ENST00000482318.5:c.*847G>A | ENSP00000477067.1:n.*847G>A | |
| NM_001001890.2:c.1176G>A | NP_001001890.1:p.Val392= | |
| NM_001754.4:c.1257G>A , LRG_482t1:c.1257G>A | NP_001745.2:p.Val419= | |
| XM_005261068.3:c.1221G>A | XP_005261125.1:p.Val407= | |
| XM_005261069.3:c.1065G>A | XP_005261126.1:p.Val355= | |
| XM_011529766.1:c.1257G>A | XP_011528068.1:p.Val419= | |
| XM_011529767.1:c.1218G>A | XP_011528069.1:p.Val406= | |
| XM_011529768.1:c.1026G>A | XP_011528070.1:p.Val342= | |
| XM_005261069.4:c.1065G>A | XP_005261126.1:p.Val355= | |
| XM_011529766.2:c.1257G>A | XP_011528068.1:p.Val419= | |
| XM_011529767.2:c.1218G>A | XP_011528069.1:p.Val406= | |
| XM_011529768.2:c.1026G>A | XP_011528070.1:p.Val342= | |
| XM_017028487.1:c.1104G>A | XP_016883976.1:p.Val368= | |
| NM_001001890.3:c.1176G>A | NP_001001890.1:p.Val392= | |
| NM_001754.5:c.1257G>A MANE Select | NP_001745.2:p.Val419= |