Revel Score:
ENST00000259455 (MANE Select)
0.749
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98371535C>T , CM000671.2:g.98371535C>T | GRCh38 |
| NC_000009.11:g.101133817C>T , CM000671.1:g.101133817C>T | GRCh37 |
| NC_000009.10:g.100173638C>T | NCBI36 |
| NG_016426.1:g.342663G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.1699G>A MANE Select | ENSP00000259455.2:p.Ala567Thr | |
| ENST00000637410.1:n.1477G>A | ||
| ENST00000259455.3:c.1699G>A | ENSP00000259455.2:p.Ala567Thr | |
| ENST00000634314.1:n.204G>A | ||
| ENST00000634457.1:c.37G>A | ENSP00000489352.1:p.Ala13Thr | |
| ENST00000635462.1:n.194G>A | ||
| NM_005458.7:c.1699G>A | NP_005449.5:p.Ala567Thr | |
| XM_005252316.3:c.925G>A | XP_005252373.1:p.Ala309Thr | |
| XM_005252316.5:c.925G>A | XP_005252373.1:p.Ala309Thr | |
| XM_017015331.2:c.1405G>A | XP_016870820.1:p.Ala469Thr | |
| XM_017015332.2:c.925G>A | XP_016870821.1:p.Ala309Thr | |
| NM_005458.8:c.1699G>A MANE Select | NP_005449.5:p.Ala567Thr |