Revel Score:
ENST00000393265
0.975
ENST00000531433
0.975
ENST00000532405 (MANE Select)
0.975
ENST00000298877
0.975
ENST00000351924
0.975
ENST00000318079
0.975
ENST00000554461
0.975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92442132C>T , CM000676.2:g.92442132C>T | GRCh38 |
| NC_000014.8:g.92908476C>T , CM000676.1:g.92908476C>T | GRCh37 |
| NC_000014.7:g.91978229C>T | NCBI36 |
| NG_023408.1:g.124552C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532405.6:c.437C>T MANE Select | ENSP00000431840.1:p.Ala146Val | |
| ENST00000676001.1:c.437C>T | ENSP00000502715.1:p.Ala146Val | |
| ENST00000393265.6:c.245C>T | ENSP00000376948.2:p.Ala82Val | |
| ENST00000525557.5:c.90C>T | ||
| ENST00000531433.5:c.437C>T | ENSP00000433302.1:p.Ala146Val | |
| ENST00000532405.5:c.437C>T | ENSP00000431840.1:p.Ala146Val | |
| ENST00000554461.5:c.110C>T | ENSP00000452099.1:p.Ala37Val | |
| NM_153646.3:c.437C>T | NP_705932.2:p.Ala146Val | |
| NM_153647.3:c.437C>T | NP_705933.2:p.Ala146Val | |
| NM_153648.3:c.245C>T | NP_705934.1:p.Ala82Val | |
| XM_005267342.1:c.110C>T | XP_005267399.1:p.Ala37Val | |
| XM_011536436.1:c.578C>T | XP_011534738.1:p.Ala193Val | |
| XM_011536437.1:c.578C>T | XP_011534739.1:p.Ala193Val | |
| XM_011536438.1:c.578C>T | XP_011534740.1:p.Ala193Val | |
| XM_011536439.1:c.578C>T | XP_011534741.1:p.Ala193Val | |
| XM_005267342.2:c.110C>T | XP_005267399.1:p.Ala37Val | |
| XM_011536436.2:c.578C>T | XP_011534738.1:p.Ala193Val | |
| XM_011536437.2:c.578C>T | XP_011534739.1:p.Ala193Val | |
| XM_011536438.2:c.578C>T | XP_011534740.1:p.Ala193Val | |
| XM_011536439.2:c.578C>T | XP_011534741.1:p.Ala193Val | |
| XM_024449478.1:c.437C>T | XP_024305246.1:p.Ala146Val | |
| NM_153647.4:c.437C>T | NP_705933.2:p.Ala146Val | |
| NM_001378620.1:c.437C>T | NP_001365549.1:p.Ala146Val | |
| NM_153646.4:c.437C>T MANE Select | NP_705932.2:p.Ala146Val | |
| NM_153648.4:c.245C>T | NP_705934.1:p.Ala82Val |