ClinVar Variation:
dbSNP:
Revel Score:
ENST00000381129 (MANE Select)
0.399
ENST00000381128
0.399
ENST00000250087
0.399
ENST00000444243
0.399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6426906A>T , CM000679.2:g.6426906A>T | GRCh38 |
| NC_000017.10:g.6330226A>T , CM000679.1:g.6330226A>T | GRCh37 |
| NC_000017.9:g.6270950A>T | NCBI36 |
| NG_008474.1:g.13294T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.617T>A MANE Select | ENSP00000370521.3:p.Ile206Asn | |
| ENST00000250087.9:c.428T>A | ENSP00000250087.5:p.Ile143Asn | |
| ENST00000381128.2:c.*489T>A | ENSP00000370520.2:n.*489T>A | |
| ENST00000381129.7:c.617T>A | ENSP00000370521.3:p.Ile206Asn | |
| ENST00000570466.5:c.551T>A | ENSP00000461287.1:p.Ile184Asn | |
| ENST00000570584.5:c.251+7013T>A | ||
| ENST00000571740.5:c.593T>A | ENSP00000460134.1:p.Ile198Asn | |
| ENST00000574506.5:c.581T>A | ENSP00000458456.1:p.Ile194Asn | |
| ENST00000574913.1:c.629T>A | ENSP00000460672.1:p.Ile210Asn | |
| ENST00000575265.5:c.617T>A | ENSP00000459673.1:p.Ile206Asn | |
| ENST00000576307.5:c.437T>A | ENSP00000459522.1:p.Ile146Asn | |
| ENST00000576776.5:c.617T>A | ENSP00000460827.1:p.Ile206Asn | |
| ENST00000621374.4:c.617T>A | ENSP00000481337.1:p.Ile206Asn | |
| NM_001033054.2:c.428T>A | NP_001028226.1:p.Ile143Asn | |
| NM_001033055.2:c.437T>A | NP_001028227.1:p.Ile146Asn | |
| NM_001285399.2:c.581T>A | NP_001272328.1:p.Ile194Asn | |
| NM_001285400.2:c.551T>A | NP_001272329.1:p.Ile184Asn | |
| NM_001285401.2:c.617T>A | NP_001272330.1:p.Ile206Asn | |
| NM_001285402.1:c.500T>A | NP_001272331.1:p.Ile167Asn | |
| NM_001285403.2:c.593T>A | NP_001272332.1:p.Ile198Asn | |
| NM_014336.4:c.617T>A | NP_055151.3:p.Ile206Asn | |
| NM_001033054.3:c.428T>A | NP_001028226.1:p.Ile143Asn | |
| NM_001033055.3:c.437T>A | NP_001028227.1:p.Ile146Asn | |
| NM_001285399.3:c.581T>A | NP_001272328.1:p.Ile194Asn | |
| NM_001285400.3:c.551T>A | NP_001272329.1:p.Ile184Asn | |
| NM_001285401.3:c.617T>A | NP_001272330.1:p.Ile206Asn | |
| NM_001285402.2:c.500T>A | NP_001272331.1:p.Ile167Asn | |
| NM_001285403.3:c.593T>A | NP_001272332.1:p.Ile198Asn | |
| NM_014336.5:c.617T>A MANE Select | NP_055151.3:p.Ile206Asn | |
| NM_001285403.4:c.593T>A | NP_001272332.1:p.Ile198Asn |