Revel Score:
ENST00000299397
0.832
ENST00000356761
0.832
ENST00000342245 (MANE Select)
0.832
ENST00000527275
0.832
ENST00000526280
0.708
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394006C>T , CM000673.2:g.6394006C>T | GRCh38 |
| NC_000011.9:g.6415236C>T , CM000673.1:g.6415236C>T | GRCh37 |
| NC_000011.8:g.6371812C>T | NCBI36 |
| NG_011780.1:g.8582C>T | |
| NG_029615.1:g.30409G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1451C>T MANE Select | ENSP00000340409.4:p.Ala484Val | |
| ENST00000342245.8:c.1451C>T | ENSP00000340409.4:p.Ala484Val | |
| ENST00000526280.1:c.508C>T | ||
| ENST00000527275.5:c.1448C>T | ENSP00000435350.1:p.Ala483Val | |
| ENST00000531303.5:c.*282C>T | ENSP00000432625.1:n.*282C>T | |
| ENST00000531336.1:n.283C>T | ||
| ENST00000532367.1:n.287C>T | ||
| ENST00000533123.5:c.*178C>T | ENSP00000435950.1:n.*178C>T | |
| ENST00000534405.5:c.*282C>T | ENSP00000434353.1:n.*282C>T | |
| NM_000543.4:c.1451C>T | NP_000534.3:p.Ala484Val | |
| NM_001007593.2:c.1448C>T | NP_001007594.2:p.Ala483Val | |
| XM_005253075.3:c.1451C>T | XP_005253132.1:p.Ala484Val | |
| XM_011520303.1:c.1319C>T | XP_011518605.1:p.Ala440Val | |
| XM_011520304.1:c.1319C>T | XP_011518606.1:p.Ala440Val | |
| XR_930886.1:n.1789C>T | ||
| NM_001318087.1:c.1451C>T | NP_001305016.1:p.Ala484Val | |
| NM_001318088.1:c.530C>T | NP_001305017.1:p.Ala177Val | |
| NM_001365135.1:c.1319C>T | NP_001352064.1:p.Ala440Val | |
| NR_027400.2:n.1464C>T | ||
| NR_134502.1:n.983C>T | ||
| XM_011520304.2:c.1319C>T | XP_011518606.1:p.Ala440Val | |
| XR_001747940.2:n.1616C>T | ||
| XR_002957158.1:n.1818C>T | ||
| NM_000543.5:c.1451C>T MANE Select | NP_000534.3:p.Ala484Val | |
| NM_001007593.3:c.1448C>T | NP_001007594.2:p.Ala483Val | |
| NM_001318087.2:c.1451C>T | NP_001305016.1:p.Ala484Val | |
| NM_001318088.2:c.530C>T | NP_001305017.1:p.Ala177Val | |
| NM_001365135.2:c.1319C>T | NP_001352064.1:p.Ala440Val | |
| NR_027400.3:n.1404C>T | ||
| NR_134502.2:n.923C>T |