Revel Score:
ENST00000496887
0.948
ENST00000155840 (MANE Select)
0.948
ENST00000335475
0.948
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572033T>A , CM000673.2:g.2572033T>A | GRCh38 |
| NC_000011.9:g.2593263T>A , CM000673.1:g.2593263T>A | GRCh37 |
| NC_000011.8:g.2549839T>A | NCBI36 |
| NG_008935.1:g.132043T>A , LRG_287:g.132043T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.443T>A | ENSP00000434560.2:p.Ile148Asn | |
| ENST00000646564.2:c.478-11402T>A | ENSP00000495806.2:n.478-11402T>A | |
| ENST00000155840.12:c.704T>A MANE Select | ENSP00000155840.2:p.Ile235Asn | |
| ENST00000335475.6:c.323T>A | ENSP00000334497.5:p.Ile108Asn | |
| ENST00000646564.1:c.124-11402T>A | ENSP00000495806.1:n.124-11402T>A | |
| ENST00000155840.9:c.704T>A | ENSP00000155840.2:p.Ile235Asn | |
| ENST00000335475.5:c.323T>A | ENSP00000334497.5:p.Ile108Asn | |
| ENST00000496887.6:c.443T>A | ENSP00000434560.1:p.Ile148Asn | |
| NM_000218.2:c.704T>A , LRG_287t1:c.704T>A | NP_000209.2:p.Ile235Asn | |
| NM_181798.1:c.323T>A , LRG_287t2:c.323T>A | NP_861463.1:p.Ile108Asn | |
| NM_000218.3:c.704T>A MANE Select | NP_000209.2:p.Ile235Asn |