Revel Score:
ENST00000310803 (MANE Select)
0.493
ENST00000450598
0.493
ENST00000415523
0.493
ENST00000431814
0.493
ENST00000539159
0.493
ENST00000414708
0.493
ENST00000541438
0.493
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38512788C>A , CM000677.2:g.38512788C>A | GRCh38 |
| NC_000015.9:g.38804989C>A , CM000677.1:g.38804989C>A | GRCh37 |
| NC_000015.8:g.36592281C>A | NCBI36 |
| NG_023268.1:g.57019G>T | |
| NG_023268.2:g.57019G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558418.6:c.700G>T | ENSP00000453905.2:p.Ala234Ser | |
| ENST00000561117.6:c.700G>T | ENSP00000454005.2:p.Ala234Ser | |
| ENST00000697780.1:c.700G>T | ENSP00000513436.1:p.Ala234Ser | |
| ENST00000697781.1:n.2867G>T | ||
| ENST00000697782.1:c.844G>T | ENSP00000513437.1:p.Ala282Ser | |
| ENST00000697783.1:c.844G>T | ENSP00000513438.1:p.Ala282Ser | |
| ENST00000697784.1:c.700G>T | ENSP00000513439.1:p.Ala234Ser | |
| ENST00000697785.1:c.700G>T | ENSP00000513440.1:p.Ala234Ser | |
| ENST00000697786.1:c.*474G>T | ENSP00000513441.1:n.*474G>T | |
| ENST00000310803.10:c.844G>T MANE Select | ENSP00000310244.5:p.Ala282Ser | |
| ENST00000310803.9:c.844G>T | ENSP00000310244.5:p.Ala282Ser | |
| ENST00000414708.6:c.844G>T | ENSP00000413105.2:p.Ala282Ser | |
| ENST00000450598.6:c.844G>T | ENSP00000388540.2:p.Ala282Ser | |
| ENST00000539159.5:c.844G>T | ENSP00000444762.2:p.Ala282Ser | |
| ENST00000558164.5:c.844G>T | ENSP00000454164.1:p.Ala282Ser | |
| ENST00000558432.5:c.886G>T | ENSP00000453583.1:p.Ala296Ser | |
| ENST00000559830.5:c.844G>T | ENSP00000452721.1:p.Ala282Ser | |
| ENST00000561180.5:c.997G>T | ENSP00000452859.1:p.Ala333Ser | |
| NM_001128602.1:c.844G>T | NP_001122074.1:p.Ala282Ser | |
| NM_001306086.1:c.844G>T | NP_001293015.1:p.Ala282Ser | |
| NM_005739.3:c.844G>T | NP_005730.2:p.Ala282Ser | |
| XM_005254114.1:c.844G>T | XP_005254171.1:p.Ala282Ser | |
| XM_011521151.1:c.844G>T | XP_011519453.1:p.Ala282Ser | |
| XM_011521153.1:c.844G>T | XP_011519455.1:p.Ala282Ser | |
| XM_011521154.1:c.844G>T | XP_011519456.1:p.Ala282Ser | |
| XR_931740.1:n.1022G>T | ||
| XR_932117.1:n.794-1066C>A | ||
| XM_005254114.3:c.844G>T | XP_005254171.1:p.Ala282Ser | |
| XM_011521151.3:c.844G>T | XP_011519453.1:p.Ala282Ser | |
| XM_017021860.1:c.700G>T | XP_016877349.1:p.Ala234Ser | |
| XR_001751485.2:n.815-1066C>A | ||
| XR_001751486.2:n.396-1066C>A | ||
| NM_005739.4:c.844G>T MANE Select | NP_005730.2:p.Ala282Ser | |
| NM_001128602.2:c.844G>T | NP_001122074.1:p.Ala282Ser | |
| NM_001306086.2:c.844G>T | NP_001293015.1:p.Ala282Ser |