Revel Score:
ENST00000264033 (MANE Select)
0.958
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119278181T>A , CM000673.2:g.119278181T>A | GRCh38 |
| NC_000011.9:g.119148891T>A , CM000673.1:g.119148891T>A | GRCh37 |
| NC_000011.8:g.118654101T>A | NCBI36 |
| NG_016808.1:g.76902T>A , LRG_608:g.76902T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*563T>A | ENSP00000515005.1:n.*563T>A | |
| ENST00000264033.6:c.1111T>A MANE Select | ENSP00000264033.3:p.Tyr371Asn | |
| ENST00000637974.1:c.1105T>A | ENSP00000490763.1:p.Tyr369Asn | |
| ENST00000264033.5:c.1111T>A | ENSP00000264033.3:p.Tyr371Asn | |
| ENST00000634586.1:c.1111T>A | ENSP00000489218.1:p.Tyr371Asn | |
| ENST00000634840.1:c.1111T>A | ENSP00000489324.1:p.Tyr371Asn | |
| NM_005188.3:c.1111T>A , LRG_608t1:c.1111T>A | NP_005179.2:p.Tyr371Asn | |
| XM_011543057.1:c.1111T>A | XP_011541359.1:p.Tyr371Asn | |
| NM_005188.4:c.1111T>A MANE Select | NP_005179.2:p.Tyr371Asn |