ClinVar Variation:
dbSNP:
Revel Score:
ENST00000359526 (MANE Select)
0.560
ENST00000540357
0.560
ENST00000340748
0.560
ENST00000541266
0.560
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10154709G>A , CM000681.2:g.10154709G>A | GRCh38 |
| NC_000019.9:g.10265385G>A , CM000681.1:g.10265385G>A | GRCh37 |
| NC_000019.8:g.10126385G>A | NCBI36 |
| NG_028016.3:g.81578C>T , LRG_362:g.81578C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.1709C>T MANE Select | ENSP00000352516.3:p.Ala570Val | |
| ENST00000676604.1:n.1321C>T | ||
| ENST00000676610.1:c.1661C>T | ENSP00000504236.1:p.Ala554Val | |
| ENST00000676820.1:n.1717C>T | ||
| ENST00000676868.1:n.2345C>T | ||
| ENST00000677013.1:c.*1351C>T | ENSP00000503135.1:n.*1351C>T | |
| ENST00000677250.1:c.*781C>T | ENSP00000502894.1:n.*781C>T | |
| ENST00000677616.1:c.1352C>T | ENSP00000503055.1:p.Ala451Val | |
| ENST00000677634.1:c.1661C>T | ENSP00000504246.1:p.Ala554Val | |
| ENST00000677685.1:c.*886C>T | ENSP00000503407.1:n.*886C>T | |
| ENST00000677783.1:n.2131C>T | ||
| ENST00000677946.1:c.1661C>T | ENSP00000504202.1:p.Ala554Val | |
| ENST00000678024.1:n.1804C>T | ||
| ENST00000678694.1:n.982C>T | ||
| ENST00000678804.1:c.1661C>T | ENSP00000503853.1:p.Ala554Val | |
| ENST00000679103.1:c.1661C>T | ENSP00000503151.1:p.Ala554Val | |
| ENST00000679313.1:c.1661C>T | ENSP00000504512.1:p.Ala554Val | |
| ENST00000340748.8:c.1661C>T | ENSP00000345739.3:p.Ala554Val | |
| ENST00000359526.8:c.1709C>T | ENSP00000352516.3:p.Ala570Val | |
| ENST00000540357.5:c.653C>T | ENSP00000440457.2:p.Ala218Val | |
| ENST00000585843.1:n.866C>T | ||
| ENST00000586799.1:c.95C>T | ||
| ENST00000592705.5:c.*1399C>T | ENSP00000466657.1:n.*1399C>T | |
| NM_001130823.1:c.1709C>T , LRG_362t1:c.1709C>T | NP_001124295.1:p.Ala570Val | |
| NM_001379.2:c.1661C>T | NP_001370.1:p.Ala554Val | |
| XM_011527772.1:c.1709C>T | XP_011526074.1:p.Ala570Val | |
| XM_011527773.1:c.1661C>T | XP_011526075.1:p.Ala554Val | |
| XM_011527774.1:c.1298C>T | XP_011526076.1:p.Ala433Val | |
| NM_001130823.2:c.1709C>T | NP_001124295.1:p.Ala570Val | |
| NM_001318730.1:c.1661C>T | NP_001305659.1:p.Ala554Val | |
| NM_001318731.1:c.1346C>T | NP_001305660.1:p.Ala449Val | |
| NM_001379.3:c.1661C>T | NP_001370.1:p.Ala554Val | |
| NM_001130823.3:c.1709C>T MANE Select | NP_001124295.1:p.Ala570Val | |
| NM_001318730.2:c.1661C>T | NP_001305659.1:p.Ala554Val | |
| NM_001318731.2:c.1346C>T | NP_001305660.1:p.Ala449Val | |
| NM_001379.4:c.1661C>T | NP_001370.1:p.Ala554Val |