Revel Score:
ENST00000155840 (MANE Select)
0.894
ENST00000335475
0.894
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583543G>A , CM000673.2:g.2583543G>A | GRCh38 |
| NC_000011.9:g.2604773G>A , CM000673.1:g.2604773G>A | GRCh37 |
| NC_000011.8:g.2561349G>A | NCBI36 |
| NG_008935.1:g.143553G>A , LRG_287:g.143553G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.769G>A | ENSP00000434560.2:p.Ala257Thr | |
| ENST00000646564.2:c.586G>A | ENSP00000495806.2:p.Ala196Thr | |
| ENST00000155840.12:c.1030G>A MANE Select | ENSP00000155840.2:p.Ala344Thr | |
| ENST00000335475.6:c.649G>A | ENSP00000334497.5:p.Ala217Thr | |
| ENST00000646564.1:c.232G>A | ENSP00000495806.1:p.Ala78Thr | |
| ENST00000155840.9:c.1030G>A | ENSP00000155840.2:p.Ala344Thr | |
| ENST00000335475.5:c.649G>A | ENSP00000334497.5:p.Ala217Thr | |
| NM_000218.2:c.1030G>A , LRG_287t1:c.1030G>A | NP_000209.2:p.Ala344Thr | |
| NM_181798.1:c.649G>A , LRG_287t2:c.649G>A | NP_861463.1:p.Ala217Thr | |
| NM_000218.3:c.1030G>A MANE Select | NP_000209.2:p.Ala344Thr |