Revel Score:
ENST00000413854
0.134
ENST00000539650
0.134
ENST00000374352
0.134
ENST00000243186
0.134
ENST00000425135
0.134
ENST00000349320
0.134
ENST00000294413 (MANE Select)
0.134
ENST00000447203
0.134
ENST00000349438
0.134
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25390874C>A , CM000663.2:g.25390874C>A | GRCh38 |
| NC_000001.10:g.25717365C>A , CM000663.1:g.25717365C>A | GRCh37 |
| NC_000001.9:g.25589952C>A | NCBI36 |
| NG_009208.3:g.44319G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294413.13:c.676G>T MANE Select | ENSP00000294413.6:p.Ala226Ser | |
| ENST00000243186.10:c.676G>T | ENSP00000243186.7:p.Ala226Ser | |
| ENST00000294413.11:c.676G>T | ENSP00000294413.6:p.Ala226Ser | |
| ENST00000340849.8:c.487-1761G>T | ENSP00000345084.4:n.487-1761G>T | |
| ENST00000346452.8:c.487-5030G>T | ENSP00000344485.4:n.487-5030G>T | |
| ENST00000349320.7:c.628G>T | ENSP00000311185.4:p.Ala210Ser | |
| ENST00000349438.8:c.676G>T | ENSP00000334570.5:p.Ala226Ser | |
| ENST00000374352.6:c.676G>T | ENSP00000363472.3:p.Ala226Ser | |
| ENST00000413854.5:c.676G>T | ENSP00000415417.2:p.Ala226Ser | |
| ENST00000527187.5:n.831G>T | ||
| ENST00000527747.5:c.107+11722G>T | ||
| ENST00000533771.1:c.*132-1761G>T | ENSP00000435401.1:n.*132-1761G>T | |
| NM_020485.4:c.676G>T | NP_065231.3:p.Ala226Ser | |
| NM_138616.3:c.487-5030G>T | NP_619522.3:n.487-5030G>T | |
| NM_138617.3:c.487-1761G>T | NP_619523.3:n.487-1761G>T | |
| NM_138618.3:c.676G>T | NP_619524.3:p.Ala226Ser | |
| XM_005245957.2:c.676G>T | XP_005246014.1:p.Ala226Ser | |
| XM_006710810.2:c.676G>T | XP_006710873.1:p.Ala226Ser | |
| XM_011541888.1:c.556G>T | XP_011540190.1:p.Ala186Ser | |
| XM_011541889.1:c.547G>T | XP_011540191.1:p.Ala183Ser | |
| XM_011541890.1:c.676G>T | XP_011540192.1:p.Ala226Ser | |
| XM_011541891.1:c.508G>T | XP_011540193.1:p.Ala170Ser | |
| NM_001330430.2:c.676G>T | NP_001317359.1:p.Ala226Ser | |
| NM_020485.5:c.676G>T | NP_065231.3:p.Ala226Ser | |
| NM_138616.4:c.487-5030G>T | NP_619522.3:n.487-5030G>T | |
| NM_138617.4:c.487-1761G>T | NP_619523.3:n.487-1761G>T | |
| NM_138618.5:c.676G>T | NP_619524.5:p.Ala226Ser | |
| XM_005245957.4:c.676G>T | XP_005246014.1:p.Ala226Ser | |
| XM_006710810.3:c.676G>T | XP_006710873.1:p.Ala226Ser | |
| XM_011541888.3:c.556G>T | XP_011540190.1:p.Ala186Ser | |
| XM_011541889.3:c.781G>T | XP_011540191.2:p.Ala261Ser | |
| XM_011541891.3:c.508G>T | XP_011540193.1:p.Ala170Ser | |
| XM_017002014.2:c.676G>T | XP_016857503.1:p.Ala226Ser | |
| NM_001330430.4:c.676G>T | NP_001317359.1:p.Ala226Ser | |
| NM_020485.7:c.-4294966581G>T | ||
| NM_138616.5:c.487-5030G>T | NP_619522.3:n.487-5030G>T | |
| NM_138617.5:c.487-1761G>T | NP_619523.3:n.487-1761G>T | |
| NM_138618.6:c.676G>T | NP_619524.5:p.Ala226Ser | |
| NM_020485.8:c.676G>T MANE Select | NP_065231.4:p.Ala226Ser |