Revel Score:
ENST00000264595 (MANE Select)
0.927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442287A>T , CM000666.2:g.177442287A>T | GRCh38 |
| NC_000004.11:g.178363441A>T , CM000666.1:g.178363441A>T | GRCh37 |
| NC_000004.10:g.178600435A>T | NCBI36 |
| NG_011845.2:g.5217T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.89T>A MANE Select | ENSP00000264595.2:p.Val30Asp | |
| ENST00000264595.6:c.89T>A | ENSP00000264595.2:p.Val30Asp | |
| ENST00000506853.5:n.123T>A | ||
| ENST00000510955.5:n.123T>A | ||
| ENST00000511231.1:n.123T>A | ||
| NM_000027.3:c.89T>A | NP_000018.2:p.Val30Asp | |
| NM_001171988.1:c.89T>A | NP_001165459.1:p.Val30Asp | |
| NR_033655.1:n.217T>A | ||
| XM_006714123.2:c.89T>A | XP_006714186.1:p.Val30Asp | |
| XR_001741155.2:n.183T>A | ||
| NM_000027.4:c.89T>A MANE Select | NP_000018.2:p.Val30Asp | |
| NM_001171988.2:c.89T>A | NP_001165459.1:p.Val30Asp | |
| NR_033655.2:n.151T>A |