Revel Score:
ENST00000393562 (MANE Select)
0.948
ENST00000291567
0.948
ENST00000393564
0.948
ENST00000369620
0.948
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154532772G>A , CM000685.2:g.154532772G>A | GRCh38 |
| NC_000023.10:g.153760987G>A , CM000685.1:g.153760987G>A | GRCh37 |
| NC_000023.9:g.153414181G>A | NCBI36 |
| NG_009015.2:g.19801C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393564.7:c.1082C>T | ENSP00000377194.2:p.Ala361Val | |
| ENST00000439227.6:c.1085C>T | ENSP00000395599.2:p.Ala362Val | |
| ENST00000696420.1:c.1082C>T | ENSP00000512615.1:p.Ala361Val | |
| ENST00000696421.1:c.1082C>T | ENSP00000512616.1:p.Ala361Val | |
| ENST00000696422.1:c.945C>T | ||
| ENST00000696423.1:c.948C>T | ||
| ENST00000696424.1:c.934C>T | ENSP00000512619.1:n.934C>T | |
| ENST00000696425.1:c.895C>T | ENSP00000512620.1:p.Pro299Ser | |
| ENST00000696426.1:c.*542C>T | ENSP00000512621.1:n.*542C>T | |
| ENST00000696427.1:c.*42C>T | ENSP00000512622.1:n.*42C>T | |
| ENST00000696428.1:c.*924C>T | ENSP00000512623.1:n.*924C>T | |
| ENST00000696429.1:c.1082C>T | ENSP00000512624.1:p.Ala361Val | |
| ENST00000696430.1:c.1082C>T | ENSP00000512625.1:p.Ala361Val | |
| ENST00000393562.10:c.1082C>T MANE Select | ENSP00000377192.3:p.Ala361Val | |
| ENST00000369620.6:c.1220C>T | ENSP00000358633.2:p.Ala407Val | |
| ENST00000393562.6:c.1172C>T | ENSP00000377192.2:p.Ala391Val | |
| ENST00000393564.6:c.1082C>T | ENSP00000377194.2:p.Ala361Val | |
| ENST00000490651.1:n.303C>T | ||
| ENST00000621232.4:c.1082C>T | ENSP00000483686.1:p.Ala361Val | |
| NM_000402.4:c.1172C>T | NP_000393.4:p.Ala391Val | |
| NM_001042351.2:c.1082C>T | NP_001035810.1:p.Ala361Val | |
| XM_005274657.2:c.1175C>T | XP_005274714.1:p.Ala392Val | |
| XM_005274658.2:c.1085C>T | XP_005274715.1:p.Ala362Val | |
| XM_011531132.1:c.988C>T | XP_011529434.1:p.Pro330Ser | |
| NM_001360016.2:c.1082C>T MANE Select | NP_001346945.1:p.Ala361Val | |
| NM_001042351.3:c.1082C>T | NP_001035810.1:p.Ala361Val |