ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00029111 (NFE)
Genomes Max Group AF
0.00023039 (NFE)
Exomes Max Group AF
0.00028914 (NFE)
Revel Score:
ENST00000357060 (MANE Select)
0.262
ENST00000428666
0.262
ENST00000278064
0.262
ENST00000369720
0.262
ENST00000369719
0.262
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104203727A>G , CM000672.2:g.104203727A>G | GRCh38 |
| NC_000010.10:g.105963485A>G , CM000672.1:g.105963485A>G | GRCh37 |
| NC_000010.9:g.105953475A>G | NCBI36 |
| NG_051581.1:g.33651T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278064.7:c.1043T>C | ENSP00000278064.3:p.Val348Ala | |
| ENST00000357060.8:c.1040T>C MANE Select | ENSP00000349568.3:p.Val347Ala | |
| ENST00000369719.2:c.1043T>C | ENSP00000358733.2:p.Val348Ala | |
| ENST00000369720.6:c.1043T>C | ENSP00000358734.2:p.Val348Ala | |
| ENST00000278064.6:c.833T>C | ENSP00000278064.2:p.Val278Ala | |
| ENST00000357060.7:c.1040T>C | ENSP00000349568.3:p.Val347Ala | |
| ENST00000369719.1:c.833T>C | ENSP00000358733.1:p.Val278Ala | |
| ENST00000369720.5:c.833T>C | ENSP00000358734.1:p.Val278Ala | |
| NM_025145.5:c.1040T>C | NP_079421.5:p.Val347Ala | |
| XM_005270171.1:c.1043T>C | XP_005270228.1:p.Val348Ala | |
| XM_005270172.2:c.1043T>C | XP_005270229.1:p.Val348Ala | |
| XM_011540196.1:c.1043T>C | XP_011538498.1:p.Val348Ala | |
| XM_011540197.1:c.1043T>C | XP_011538499.1:p.Val348Ala | |
| XM_011540198.1:c.1043T>C | XP_011538500.1:p.Val348Ala | |
| XM_011540199.1:c.1043T>C | XP_011538501.1:p.Val348Ala | |
| XM_011540200.1:c.1043T>C | XP_011538502.1:p.Val348Ala | |
| XM_011540201.1:c.1043T>C | XP_011538503.1:p.Val348Ala | |
| XM_011540202.1:c.272T>C | XP_011538504.1:p.Val91Ala | |
| NM_025145.6:c.1040T>C | NP_079421.5:p.Val347Ala | |
| XM_005270171.2:c.1043T>C | XP_005270228.1:p.Val348Ala | |
| XM_005270172.3:c.1043T>C | XP_005270229.1:p.Val348Ala | |
| XM_011540196.2:c.1043T>C | XP_011538498.1:p.Val348Ala | |
| XM_011540197.2:c.1043T>C | XP_011538499.1:p.Val348Ala | |
| XM_011540198.2:c.1043T>C | XP_011538500.1:p.Val348Ala | |
| XM_011540199.2:c.1043T>C | XP_011538501.1:p.Val348Ala | |
| XM_011540200.2:c.1043T>C | XP_011538502.1:p.Val348Ala | |
| XM_011540201.2:c.1043T>C | XP_011538503.1:p.Val348Ala | |
| XM_011540202.2:c.272T>C | XP_011538504.1:p.Val91Ala | |
| XM_017016681.1:c.1040T>C | XP_016872170.1:p.Val347Ala | |
| XM_017016682.1:c.1043T>C | XP_016872171.1:p.Val348Ala | |
| XM_017016684.1:c.1043T>C | XP_016872173.1:p.Val348Ala | |
| XR_002957015.1:n.926T>C | ||
| NM_025145.7:c.1040T>C MANE Select | NP_079421.5:p.Val347Ala |