ClinGen Classification:
Classification
Uncertain Significance
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000128 (NFE)
Exomes Max Group AF
0.00000136 (NFE)
Revel Score:
ENST00000344691
0.203
ENST00000300305
0.203
ENST00000437180
0.203
ENST00000325074
0.203
ENST00000399240
0.203
ENST00000399245
0.203
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792182T>C , CM000683.2:g.34792182T>C | GRCh38 |
| NC_000021.8:g.36164479T>C , CM000683.1:g.36164479T>C | GRCh37 |
| NC_000021.7:g.35086349T>C | NCBI36 |
| NG_011402.2:g.1197530A>G , LRG_482:g.1197530A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1396A>G MANE Select | ENSP00000501943.1:p.Met466Val | |
| ENST00000300305.7:c.1396A>G | ENSP00000300305.3:p.Met466Val | |
| ENST00000344691.8:c.1315A>G | ENSP00000340690.4:p.Met439Val | |
| ENST00000399240.5:c.1123A>G | ENSP00000382184.1:p.Met375Val | |
| ENST00000437180.5:c.1396A>G | ENSP00000409227.1:p.Met466Val | |
| ENST00000482318.5:c.*986A>G | ENSP00000477067.1:n.*986A>G | |
| NM_001001890.2:c.1315A>G | NP_001001890.1:p.Met439Val | |
| NM_001754.4:c.1396A>G , LRG_482t1:c.1396A>G | NP_001745.2:p.Met466Val | |
| XM_005261068.3:c.1360A>G | XP_005261125.1:p.Met454Val | |
| XM_005261069.3:c.1204A>G | XP_005261126.1:p.Met402Val | |
| XM_011529766.1:c.1396A>G | XP_011528068.1:p.Met466Val | |
| XM_011529767.1:c.1357A>G | XP_011528069.1:p.Met453Val | |
| XM_011529768.1:c.1165A>G | XP_011528070.1:p.Met389Val | |
| XM_005261069.4:c.1204A>G | XP_005261126.1:p.Met402Val | |
| XM_011529766.2:c.1396A>G | XP_011528068.1:p.Met466Val | |
| XM_011529767.2:c.1357A>G | XP_011528069.1:p.Met453Val | |
| XM_011529768.2:c.1165A>G | XP_011528070.1:p.Met389Val | |
| XM_017028487.1:c.1243A>G | XP_016883976.1:p.Met415Val | |
| NM_001001890.3:c.1315A>G | NP_001001890.1:p.Met439Val | |
| NM_001754.5:c.1396A>G MANE Select | NP_001745.2:p.Met466Val |