Revel Score:
ENST00000301030 (MANE Select)
0.568
ENST00000378330
0.568
ENST00000378332
0.568
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89288598G>A , CM000678.2:g.89288598G>A | GRCh38 |
| NC_000016.9:g.89355006G>A , CM000678.1:g.89355006G>A | GRCh37 |
| NC_000016.8:g.87882507G>A | NCBI36 |
| NG_032003.1:g.206964C>T | |
| NG_032003.2:g.206964C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301030.10:c.674C>T MANE Select | ENSP00000301030.4:p.Ala225Val | |
| ENST00000330736.10:c.*477C>T | ENSP00000330815.5:n.*477C>T | |
| ENST00000378330.7:c.674C>T | ENSP00000367581.2:p.Ala225Val | |
| ENST00000378332.7:c.*936C>T | ENSP00000367583.2:n.*936C>T | |
| ENST00000562275.6:c.*477C>T | ENSP00000454550.1:n.*477C>T | |
| ENST00000567699.2:n.444-2412C>T | ||
| ENST00000568100.2:n.380C>T | ||
| ENST00000642333.1:c.674C>T | ENSP00000496651.1:p.Ala225Val | |
| ENST00000642443.1:c.299C>T | ENSP00000493644.1:p.Ala100Val | |
| ENST00000642600.1:c.674C>T | ENSP00000495226.1:p.Ala225Val | |
| ENST00000642695.1:c.674C>T | ENSP00000495449.1:p.Ala225Val | |
| ENST00000643964.1:c.*477C>T | ENSP00000495181.1:n.*477C>T | |
| ENST00000644285.1:c.674C>T | ENSP00000496476.1:p.Ala225Val | |
| ENST00000644784.1:c.674C>T | ENSP00000496419.1:p.Ala225Val | |
| ENST00000645212.1:n.105C>T | ||
| ENST00000645278.1:c.*304C>T | ENSP00000494850.1:n.*304C>T | |
| ENST00000646345.1:n.666C>T | ||
| ENST00000646838.1:c.674C>T | ENSP00000495124.1:p.Ala225Val | |
| ENST00000646975.1:c.674C>T | ENSP00000495608.1:p.Ala225Val | |
| ENST00000301030.8:c.674C>T | ENSP00000301030.4:p.Ala225Val | |
| ENST00000330736.9:c.*477C>T | ENSP00000330815.5:n.*477C>T | |
| ENST00000378330.6:c.674C>T | ENSP00000367581.2:p.Ala225Val | |
| ENST00000378332.6:c.*936C>T | ENSP00000367583.2:n.*936C>T | |
| ENST00000562194.1:c.81C>T | ||
| ENST00000562275.5:c.*477C>T | ENSP00000454550.1:n.*477C>T | |
| ENST00000613312.4:c.674C>T | ENSP00000478018.1:p.Ala225Val | |
| NM_001256182.1:c.674C>T | NP_001243111.1:p.Ala225Val | |
| NM_001256183.1:c.674C>T | NP_001243112.1:p.Ala225Val | |
| NM_013275.5:c.674C>T | NP_037407.4:p.Ala225Val | |
| NR_045839.1:n.1505C>T | ||
| XM_006721181.1:c.572C>T | XP_006721244.1:p.Ala191Val | |
| XM_006721184.2:c.377C>T | XP_006721247.1:p.Ala126Val | |
| XM_011523051.1:c.674C>T | XP_011521353.1:p.Ala225Val | |
| XM_011523052.1:c.674C>T | XP_011521354.1:p.Ala225Val | |
| XM_011523053.1:c.674C>T | XP_011521355.1:p.Ala225Val | |
| XM_011523054.1:c.572C>T | XP_011521356.1:p.Ala191Val | |
| XM_011523055.1:c.572C>T | XP_011521357.1:p.Ala191Val | |
| XM_011523056.1:c.545C>T | XP_011521358.1:p.Ala182Val | |
| XM_011523057.1:c.674C>T | XP_011521359.1:p.Ala225Val | |
| XM_011523051.3:c.674C>T | XP_011521353.1:p.Ala225Val | |
| XM_011523053.2:c.674C>T | XP_011521355.1:p.Ala225Val | |
| XM_011523054.2:c.572C>T | XP_011521356.1:p.Ala191Val | |
| XM_011523055.2:c.572C>T | XP_011521357.1:p.Ala191Val | |
| XM_011523056.2:c.545C>T | XP_011521358.1:p.Ala182Val | |
| XM_011523057.2:c.674C>T | XP_011521359.1:p.Ala225Val | |
| XM_017023182.2:c.674C>T | XP_016878671.1:p.Ala225Val | |
| XM_017023183.1:c.674C>T | XP_016878672.1:p.Ala225Val | |
| XM_017023184.1:c.674C>T | XP_016878673.1:p.Ala225Val | |
| XM_017023185.1:c.674C>T | XP_016878674.1:p.Ala225Val | |
| XM_017023186.1:c.674C>T | XP_016878675.1:p.Ala225Val | |
| XM_017023187.1:c.674C>T | XP_016878676.1:p.Ala225Val | |
| XM_024450244.1:c.572C>T | XP_024306012.1:p.Ala191Val | |
| NM_013275.6:c.674C>T MANE Select | NP_037407.4:p.Ala225Val | |
| NM_001256182.2:c.674C>T | NP_001243111.1:p.Ala225Val | |
| NM_001256183.2:c.674C>T | NP_001243112.1:p.Ala225Val | |
| NR_045839.2:n.1505C>T |