ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00028905 (AMR)
Genomes Max Group AF
0.00005279 (AMR)
Exomes Max Group AF
0.00033296 (AMR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44707995C>T , CM000669.2:g.44707995C>T | GRCh38 |
| NC_000007.13:g.44747594C>T , CM000669.1:g.44747594C>T | GRCh37 |
| NC_000007.12:g.44714119C>T | NCBI36 |
| NG_023260.1:g.106474C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447398.6:c.3101C>T | ENSP00000388183.1:p.Ser1034Leu | |
| ENST00000222673.6:c.3068C>T MANE Select | ENSP00000222673.5:p.Ser1023Leu | |
| ENST00000222673.5:c.3068C>T | ENSP00000222673.5:p.Ser1023Leu | |
| ENST00000439616.6:c.2618C>T | ENSP00000398576.2:p.Ser873Leu | |
| ENST00000444676.5:c.3113C>T | ENSP00000414662.1:p.Ser1038Leu | |
| ENST00000447398.5:c.3101C>T | ENSP00000388183.1:p.Ser1034Leu | |
| ENST00000449767.5:c.3056C>T | ENSP00000392878.1:p.Ser1019Leu | |
| ENST00000631326.2:c.*58C>T | ENSP00000486854.1:n.*58C>T | |
| NM_001165036.1:c.3056C>T | NP_001158508.1:p.Ser1019Leu | |
| NM_002541.3:c.3068C>T | NP_002532.2:p.Ser1023Leu | |
| XM_005249759.3:c.3113C>T | XP_005249816.1:p.Ser1038Leu | |
| XM_005249761.2:c.3101C>T | XP_005249818.1:p.Ser1034Leu | |
| XM_011515408.1:c.3113C>T | XP_011513710.1:p.Ser1038Leu | |
| NM_001363523.1:c.3101C>T | NP_001350452.1:p.Ser1034Leu | |
| XM_005249759.5:c.3113C>T | XP_005249816.1:p.Ser1038Leu | |
| XM_011515408.2:c.3113C>T | XP_011513710.1:p.Ser1038Leu | |
| XM_024446783.1:c.2453C>T | XP_024302551.1:p.Ser818Leu | |
| NM_002541.4:c.3068C>T MANE Select | NP_002532.2:p.Ser1023Leu | |
| NM_001165036.2:c.3056C>T | NP_001158508.1:p.Ser1019Leu | |
| NM_001363523.2:c.3101C>T | NP_001350452.1:p.Ser1034Leu |