ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001298 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001213 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44707619T>C , CM000669.2:g.44707619T>C | GRCh38 |
| NC_000007.13:g.44747218T>C , CM000669.1:g.44747218T>C | GRCh37 |
| NC_000007.12:g.44713743T>C | NCBI36 |
| NG_023260.1:g.106098T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447398.6:c.2867T>C | ENSP00000388183.1:p.Val956Ala | |
| ENST00000222673.6:c.2834T>C MANE Select | ENSP00000222673.5:p.Val945Ala | |
| ENST00000222673.5:c.2834T>C | ENSP00000222673.5:p.Val945Ala | |
| ENST00000439616.6:c.2384T>C | ENSP00000398576.2:p.Val795Ala | |
| ENST00000444676.5:c.2879T>C | ENSP00000414662.1:p.Val960Ala | |
| ENST00000447398.5:c.2867T>C | ENSP00000388183.1:p.Val956Ala | |
| ENST00000449767.5:c.2822T>C | ENSP00000392878.1:p.Val941Ala | |
| ENST00000631326.2:c.2831T>C | ENSP00000486854.1:p.Val944Ala | |
| NM_001165036.1:c.2822T>C | NP_001158508.1:p.Val941Ala | |
| NM_002541.3:c.2834T>C | NP_002532.2:p.Val945Ala | |
| XM_005249759.3:c.2879T>C | XP_005249816.1:p.Val960Ala | |
| XM_005249761.2:c.2867T>C | XP_005249818.1:p.Val956Ala | |
| XM_011515408.1:c.2879T>C | XP_011513710.1:p.Val960Ala | |
| NM_001363523.1:c.2867T>C | NP_001350452.1:p.Val956Ala | |
| XM_005249759.5:c.2879T>C | XP_005249816.1:p.Val960Ala | |
| XM_011515408.2:c.2879T>C | XP_011513710.1:p.Val960Ala | |
| XM_024446783.1:c.2219T>C | XP_024302551.1:p.Val740Ala | |
| NM_002541.4:c.2834T>C MANE Select | NP_002532.2:p.Val945Ala | |
| NM_001165036.2:c.2822T>C | NP_001158508.1:p.Val941Ala | |
| NM_001363523.2:c.2867T>C | NP_001350452.1:p.Val956Ala |