Revel Score:
ENST00000354593
0.037
ENST00000336411
0.037
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99767175A>T , CM000669.2:g.99767175A>T | GRCh38 |
| NC_000007.13:g.99364798A>T , CM000669.1:g.99364798A>T | GRCh37 |
| NC_000007.12:g.99202734A>T | NCBI36 |
| NG_008421.1:g.22011T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.754T>A | ENSP00000337915.3:p.Ser252Thr | |
| ENST00000651162.1:n.189T>A | ||
| ENST00000651514.1:c.754T>A MANE Select | ENSP00000498939.1:p.Ser252Thr | |
| ENST00000651783.1:c.295T>A | ENSP00000498924.1:p.Ser99Thr | |
| ENST00000652018.1:c.607T>A | ENSP00000498733.1:p.Ser203Thr | |
| ENST00000336411.6:c.754T>A | ENSP00000337915.2:p.Ser252Thr | |
| ENST00000354593.6:c.304T>A | ENSP00000346607.2:p.Ser102Thr | |
| NM_001202855.2:c.751T>A | NP_001189784.1:p.Ser251Thr | |
| NM_017460.5:c.754T>A | NP_059488.2:p.Ser252Thr | |
| XM_011515841.1:c.754T>A | XP_011514143.1:p.Ser252Thr | |
| XM_011515842.1:c.751T>A | XP_011514144.1:p.Ser251Thr | |
| NM_017460.6:c.754T>A MANE Select | NP_059488.2:p.Ser252Thr | |
| NM_001202855.3:c.751T>A | NP_001189784.1:p.Ser251Thr |