Revel Score:
ENST00000399169
0.622
ENST00000298596 (MANE Select)
0.622
ENST00000399165
0.622
ENST00000399162
0.622
ENST00000421961
0.622
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68882104T>A , CM000672.2:g.68882104T>A | GRCh38 |
| NC_000010.10:g.70641860T>A , CM000672.1:g.70641860T>A | GRCh37 |
| NC_000010.9:g.70311866T>A | NCBI36 |
| NG_012975.1:g.59567T>A | |
| NG_012975.2:g.59568T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298596.11:c.457T>A MANE Select | ENSP00000298596.6:p.Tyr153Asn | |
| ENST00000642869.1:c.793T>A | ENSP00000494558.1:p.Tyr265Asn | |
| ENST00000298596.10:c.457T>A | ENSP00000298596.6:p.Tyr153Asn | |
| ENST00000399162.2:c.457T>A | ENSP00000382115.2:p.Tyr153Asn | |
| ENST00000399165.8:c.457T>A | ENSP00000382118.4:p.Tyr153Asn | |
| ENST00000399169.8:c.457T>A | ENSP00000382121.4:p.Tyr153Asn | |
| NM_001130159.2:c.457T>A | NP_001123631.1:p.Tyr153Asn | |
| NM_001130160.2:c.457T>A | NP_001123632.1:p.Tyr153Asn | |
| NM_001130161.2:c.457T>A | NP_001123633.1:p.Tyr153Asn | |
| NM_152709.4:c.457T>A | NP_689922.3:p.Tyr153Asn | |
| XM_011539454.1:c.127T>A | XP_011537756.1:p.Tyr43Asn | |
| XM_011539454.2:c.127T>A | XP_011537756.1:p.Tyr43Asn | |
| NM_152709.5:c.457T>A MANE Select | NP_689922.3:p.Tyr153Asn | |
| NM_001130161.3:c.457T>A | NP_001123633.1:p.Tyr153Asn | |
| NM_001130159.3:c.457T>A | NP_001123631.1:p.Tyr153Asn | |
| NM_001130160.3:c.457T>A | NP_001123632.1:p.Tyr153Asn | |
| NM_001130161.4:c.457T>A | NP_001123633.1:p.Tyr153Asn |