Revel Score:
ENST00000431842
0.025
ENST00000493960
0.025
ENST00000355628
0.025
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.56633654G>A , CM000665.2:g.56633654G>A | GRCh38 |
| NC_000003.11:g.56667682G>A , CM000665.1:g.56667682G>A | GRCh37 |
| NC_000003.10:g.56642722G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683822.1:c.3137C>T MANE Select | ENSP00000508241.1:p.Thr1046Ile | |
| ENST00000355628.9:c.2954C>T | ENSP00000347845.5:p.Thr985Ile | |
| ENST00000431842.6:c.1826C>T | ENSP00000399410.2:p.Thr609Ile | |
| ENST00000459993.5:n.319C>T | ||
| ENST00000493960.6:c.3137C>T | ENSP00000417509.2:p.Thr1046Ile | |
| ENST00000614531.1:c.1232C>T | ENSP00000483340.1:p.Thr411Ile | |
| NM_001112736.1:c.3137C>T | NP_001106207.1:p.Thr1046Ile | |
| NM_015224.3:c.1826C>T | NP_056039.2:p.Thr609Ile | |
| XM_005264999.1:c.3137C>T | XP_005265056.1:p.Thr1046Ile | |
| XM_006713077.1:c.3014C>T | XP_006713140.1:p.Thr1005Ile | |
| XM_006713078.1:c.1949C>T | XP_006713141.1:p.Thr650Ile | |
| XM_011533552.1:c.2954C>T | XP_011531854.1:p.Thr985Ile | |
| XM_011533553.1:c.2189C>T | XP_011531855.1:p.Thr730Ile | |
| NM_001363940.1:c.2954C>T | NP_001350869.1:p.Thr985Ile | |
| NM_001365635.1:c.3137C>T | NP_001352564.1:p.Thr1046Ile | |
| NM_001365636.1:c.3014C>T | NP_001352565.1:p.Thr1005Ile | |
| NM_001365637.1:c.3014C>T | NP_001352566.1:p.Thr1005Ile | |
| NM_001365638.1:c.2954C>T | NP_001352567.1:p.Thr985Ile | |
| XM_006713078.2:c.1949C>T | XP_006713141.1:p.Thr650Ile | |
| NM_001112736.2:c.3137C>T | NP_001106207.1:p.Thr1046Ile | |
| NM_001365635.2:c.3137C>T MANE Select | NP_001352564.1:p.Thr1046Ile | |
| NM_001365636.2:c.3014C>T | NP_001352565.1:p.Thr1005Ile | |
| NM_001365637.2:c.3014C>T | NP_001352566.1:p.Thr1005Ile | |
| NM_001365638.2:c.2954C>T | NP_001352567.1:p.Thr985Ile |