Revel Score:
ENST00000399402
0.954
ENST00000307363 (MANE Select)
0.954
ENST00000445488
0.954
ENST00000307377
0.954
ENST00000415454
0.954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33046184G>A , CM000665.2:g.33046184G>A | GRCh38 |
| NC_000003.11:g.33087676G>A , CM000665.1:g.33087676G>A | GRCh37 |
| NC_000003.10:g.33062680G>A | NCBI36 |
| NG_009005.1:g.56019C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1004C>T MANE Select | ENSP00000306920.4:p.Ala335Val | |
| ENST00000307363.9:c.1004C>T | ENSP00000306920.4:p.Ala335Val | |
| ENST00000307377.12:c.611C>T | ENSP00000305920.8:p.Ala204Val | |
| ENST00000399402.7:c.914C>T | ENSP00000382333.2:p.Ala305Val | |
| ENST00000415454.1:c.527C>T | ENSP00000411813.1:p.Ala176Val | |
| ENST00000482097.5:n.379C>T | ||
| ENST00000485698.5:n.407C>T | ||
| ENST00000490658.2:n.9C>T | ||
| ENST00000498537.5:n.530C>T | ||
| NM_000404.2:c.1004C>T | NP_000395.2:p.Ala335Val | |
| NM_000404.3:c.1004C>T | NP_000395.2:p.Ala335Val | |
| NM_001079811.1:c.914C>T | NP_001073279.1:p.Ala305Val | |
| NM_001079811.2:c.914C>T | NP_001073279.1:p.Ala305Val | |
| NM_001135602.1:c.611C>T | NP_001129074.1:p.Ala204Val | |
| NM_001135602.2:c.611C>T | NP_001129074.1:p.Ala204Val | |
| NM_001317040.1:c.1148C>T | NP_001303969.1:p.Ala383Val | |
| NM_000404.4:c.1004C>T MANE Select | NP_000395.3:p.Ala335Val | |
| NM_001079811.3:c.914C>T | NP_001073279.2:p.Ala305Val | |
| NM_001135602.3:c.611C>T | NP_001129074.2:p.Ala204Val | |
| NM_001317040.2:c.1148C>T | NP_001303969.2:p.Ala383Val | |
| NM_001393580.1:c.1004C>T | NP_001380509.1:p.Ala335Val |