Revel Score:
ENST00000155840 (MANE Select)
0.908
ENST00000335475
0.908
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583456T>A , CM000673.2:g.2583456T>A | GRCh38 |
| NC_000011.9:g.2604686T>A , CM000673.1:g.2604686T>A | GRCh37 |
| NC_000011.8:g.2561262T>A | NCBI36 |
| NG_008935.1:g.143466T>A , LRG_287:g.143466T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.682T>A | ENSP00000434560.2:p.Tyr228Asn | |
| ENST00000646564.2:c.499T>A | ENSP00000495806.2:p.Tyr167Asn | |
| ENST00000155840.12:c.943T>A MANE Select | ENSP00000155840.2:p.Tyr315Asn | |
| ENST00000335475.6:c.562T>A | ENSP00000334497.5:p.Tyr188Asn | |
| ENST00000646564.1:c.145T>A | ENSP00000495806.1:p.Tyr49Asn | |
| ENST00000155840.9:c.943T>A | ENSP00000155840.2:p.Tyr315Asn | |
| ENST00000335475.5:c.562T>A | ENSP00000334497.5:p.Tyr188Asn | |
| NM_000218.2:c.943T>A , LRG_287t1:c.943T>A | NP_000209.2:p.Tyr315Asn | |
| NM_181798.1:c.562T>A , LRG_287t2:c.562T>A | NP_861463.1:p.Tyr188Asn | |
| NM_000218.3:c.943T>A MANE Select | NP_000209.2:p.Tyr315Asn |