dbSNP:
Revel Score:
ENST00000376214
0.824
ENST00000376213
0.824
ENST00000277120 (MANE Select)
0.824
ENST00000323115
0.824
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.84955510A>T , CM000671.2:g.84955510A>T | GRCh38 |
| NC_000009.11:g.87570425A>T , CM000671.1:g.87570425A>T | GRCh37 |
| NC_000009.10:g.86760245A>T | NCBI36 |
| NG_012201.2:g.291960A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323115.11:c.2081A>T | ENSP00000314586.5:p.Tyr694Phe | |
| ENST00000685095.1:n.2651A>T | ||
| ENST00000685463.1:n.2782A>T | ||
| ENST00000686259.1:c.2117A>T | ENSP00000509743.1:p.Tyr706Phe | |
| ENST00000686324.1:c.2165A>T | ENSP00000510134.1:p.Tyr722Phe | |
| ENST00000686332.1:n.3195A>T | ||
| ENST00000686496.1:c.2117A>T | ENSP00000510060.1:p.Tyr706Phe | |
| ENST00000687386.1:c.2117A>T | ENSP00000508723.1:p.Tyr706Phe | |
| ENST00000687690.1:n.430A>T | ||
| ENST00000688333.1:n.3050A>T | ||
| ENST00000688978.1:n.836A>T | ||
| ENST00000689301.1:c.1649A>T | ENSP00000510766.1:p.Tyr550Phe | |
| ENST00000690882.1:n.2782A>T | ||
| ENST00000691788.1:c.2117A>T | ENSP00000509401.1:p.Tyr706Phe | |
| ENST00000692181.1:c.2117A>T | ENSP00000510619.1:p.Tyr706Phe | |
| ENST00000692473.1:c.1697A>T | ENSP00000509020.1:p.Tyr566Phe | |
| ENST00000277120.8:c.2165A>T MANE Select | ENSP00000277120.3:p.Tyr722Phe | |
| ENST00000323115.10:c.2117A>T | ENSP00000314586.4:p.Tyr706Phe | |
| ENST00000376213.6:c.2117A>T | ENSP00000365386.1:p.Tyr706Phe | |
| ENST00000277120.7:c.2165A>T | ENSP00000277120.3:p.Tyr722Phe | |
| ENST00000323115.8:c.2117A>T | ENSP00000314586.4:p.Tyr706Phe | |
| ENST00000376213.5:c.2117A>T | ENSP00000365386.1:p.Tyr706Phe | |
| ENST00000376214.5:c.2165A>T | ENSP00000365387.1:p.Tyr722Phe | |
| NM_001018064.2:c.2117A>T | NP_001018074.1:p.Tyr706Phe | |
| NM_006180.4:c.2165A>T | NP_006171.2:p.Tyr722Phe | |
| XM_005252001.1:c.2165A>T | XP_005252058.1:p.Tyr722Phe | |
| XM_005252003.1:c.2165A>T | XP_005252060.1:p.Tyr722Phe | |
| XM_005252004.1:c.2165A>T | XP_005252061.1:p.Tyr722Phe | |
| XM_011518718.1:c.2117A>T | XP_011517020.1:p.Tyr706Phe | |
| XM_011518719.1:c.2117A>T | XP_011517021.1:p.Tyr706Phe | |
| XM_005252001.3:c.2165A>T | XP_005252058.1:p.Tyr722Phe | |
| XM_005252003.3:c.2165A>T | XP_005252060.1:p.Tyr722Phe | |
| XM_005252004.2:c.2165A>T | XP_005252061.1:p.Tyr722Phe | |
| XM_011518718.3:c.2117A>T | XP_011517020.1:p.Tyr706Phe | |
| XM_017014751.2:c.2165A>T | XP_016870240.1:p.Tyr722Phe | |
| XM_017014752.1:c.2117A>T | XP_016870241.1:p.Tyr706Phe | |
| XM_017014753.2:c.2117A>T | XP_016870242.1:p.Tyr706Phe | |
| XM_017014754.1:c.2117A>T | XP_016870243.1:p.Tyr706Phe | |
| NM_001018064.3:c.2117A>T | NP_001018074.1:p.Tyr706Phe | |
| NM_001369532.1:c.2117A>T | NP_001356461.1:p.Tyr706Phe | |
| NM_001369533.1:c.2117A>T | NP_001356462.1:p.Tyr706Phe | |
| NM_001369534.1:c.2081A>T | NP_001356463.1:p.Tyr694Phe | |
| NM_001369535.1:c.1649A>T | NP_001356464.1:p.Tyr550Phe | |
| NM_001369536.1:c.1697A>T | NP_001356465.1:p.Tyr566Phe | |
| NM_006180.5:c.2165A>T | NP_006171.2:p.Tyr722Phe | |
| NM_006180.6:c.2165A>T MANE Select | NP_006171.2:p.Tyr722Phe |