Revel Score:
ENST00000368508
0.155
ENST00000368507 (MANE Select)
0.155
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117301021G>A , CM000668.2:g.117301021G>A | GRCh38 |
| NC_000006.11:g.117622184G>A , CM000668.1:g.117622184G>A | GRCh37 |
| NC_000006.10:g.117728877G>A | NCBI36 |
| NG_033929.1:g.129835C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368507.8:c.6668C>T MANE Select | ENSP00000357493.3:p.Ser2223Phe | |
| ENST00000368507.7:c.6668C>T | ENSP00000357493.3:p.Ser2223Phe | |
| ENST00000368508.7:c.6686C>T | ENSP00000357494.3:p.Ser2229Phe | |
| NM_002944.2:c.6686C>T | NP_002935.2:p.Ser2229Phe | |
| XM_006715548.2:c.6671C>T | XP_006715611.1:p.Ser2224Phe | |
| XM_011536049.1:c.6716C>T | XP_011534351.1:p.Ser2239Phe | |
| XM_011536050.1:c.6713C>T | XP_011534352.1:p.Ser2238Phe | |
| XM_011536051.1:c.6689C>T | XP_011534353.1:p.Ser2230Phe | |
| XM_011536052.1:c.6674C>T | XP_011534354.1:p.Ser2225Phe | |
| XM_011536053.1:c.6542C>T | XP_011534355.1:p.Ser2181Phe | |
| XM_011536054.1:c.6599+7773C>T | XP_011534356.1:n.6599+7773C>T | |
| XM_006715548.4:c.6671C>T | XP_006715611.1:p.Ser2224Phe | |
| XM_011536049.2:c.6716C>T | XP_011534351.1:p.Ser2239Phe | |
| XM_011536050.2:c.6713C>T | XP_011534352.1:p.Ser2238Phe | |
| XM_011536051.2:c.6689C>T | XP_011534353.1:p.Ser2230Phe | |
| XM_011536052.2:c.6674C>T | XP_011534354.1:p.Ser2225Phe | |
| XM_011536053.2:c.6542C>T | XP_011534355.1:p.Ser2181Phe | |
| XM_011536054.2:c.6599+7773C>T | XP_011534356.1:n.6599+7773C>T | |
| XM_017011172.1:c.6647C>T | XP_016866661.1:p.Ser2216Phe | |
| XM_017011173.1:c.6644C>T | XP_016866662.1:p.Ser2215Phe | |
| NM_001378891.1:c.6674C>T | NP_001365820.1:p.Ser2225Phe | |
| NM_001378902.1:c.6668C>T MANE Select | NP_001365831.1:p.Ser2223Phe | |
| NM_002944.3:c.6686C>T | NP_002935.2:p.Ser2229Phe |