Revel Score:
ENST00000376207 (MANE Select)
0.286
ENST00000376199
0.286
ENST00000557224
0.286
ENST00000518685
0.286
ENST00000376197
0.286
ENST00000455775
0.286
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49257447G>A , CM000685.2:g.49257447G>A | GRCh38 |
| NC_000023.10:g.49113904G>A , CM000685.1:g.49113904G>A | GRCh37 |
| NC_000023.9:g.49000848G>A | NCBI36 |
| NG_007392.1:g.12385C>T , LRG_62:g.12385C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.329C>T | ENSP00000365372.2:p.Ala110Val | |
| ENST00000376207.10:c.434C>T MANE Select | ENSP00000365380.4:p.Ala145Val | |
| ENST00000455775.7:c.434C>T | ENSP00000396415.3:p.Ala145Val | |
| ENST00000518685.6:c.434C>T | ENSP00000428952.2:p.Ala145Val | |
| ENST00000557224.6:c.329C>T | ENSP00000451208.1:p.Ala110Val | |
| ENST00000651307.1:c.434C>T | ENSP00000498454.1:p.Ala145Val | |
| ENST00000652559.1:c.287C>T | ENSP00000498236.1:p.Ala96Val | |
| ENST00000376197.1:c.284C>T | ENSP00000365369.1:p.Ala95Val | |
| ENST00000376199.6:c.329C>T | ENSP00000365372.2:p.Ala110Val | |
| ENST00000376207.8:c.434C>T | ENSP00000365380.4:p.Ala145Val | |
| ENST00000455775.6:c.434C>T | ENSP00000396415.3:p.Ala145Val | |
| ENST00000518685.5:c.329C>T | ENSP00000428952.1:p.Ala110Val | |
| ENST00000557224.5:c.329C>T | ENSP00000451208.1:p.Ala110Val | |
| NM_001114377.1:c.329C>T | NP_001107849.1:p.Ala110Val | |
| NM_014009.3:c.434C>T , LRG_62t1:c.434C>T | NP_054728.2:p.Ala145Val | |
| XM_006724533.2:c.434C>T | XP_006724596.2:p.Ala145Val | |
| XM_011543915.1:c.653C>T | XP_011542217.1:p.Ala218Val | |
| XM_011543916.1:c.653C>T | XP_011542218.1:p.Ala218Val | |
| XM_011543917.1:c.452C>T | XP_011542219.1:p.Ala151Val | |
| XM_011543918.1:c.689C>T | XP_011542220.1:p.Ala230Val | |
| XM_011543919.1:c.653C>T | XP_011542221.1:p.Ala218Val | |
| XM_017029567.1:c.380C>T | XP_016885056.1:p.Ala127Val | |
| NM_001114377.2:c.329C>T | NP_001107849.1:p.Ala110Val | |
| NM_014009.4:c.434C>T MANE Select | NP_054728.2:p.Ala145Val |