ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000380152 (MANE Select)
0.589
ENST00000544455
0.589
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394923A>T , CM000675.2:g.32394923A>T | GRCh38 |
| NC_000013.10:g.32969060A>T , CM000675.1:g.32969060A>T | GRCh37 |
| NC_000013.9:g.31867060A>T | NCBI36 |
| NG_012772.3:g.84444A>T , LRG_293:g.84444A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9491A>T | ENSP00000434898.2:p.Asn3164Ile | |
| ENST00000528762.2:c.*858A>T | ENSP00000433168.2:n.*858A>T | |
| ENST00000530893.7:c.9122A>T | ENSP00000499438.2:p.Asn3041Ile | |
| ENST00000665585.2:c.*1053A>T | ENSP00000499570.2:n.*1053A>T | |
| ENST00000666593.2:c.*336A>T | ENSP00000499256.2:n.*336A>T | |
| ENST00000700202.2:c.9440A>T | ENSP00000514856.2:p.Asn3147Ile | |
| ENST00000700202.1:c.1907A>T | ENSP00000514856.1:p.Asn636Ile | |
| ENST00000700203.1:n.1618A>T | ||
| ENST00000380152.8:c.9491A>T MANE Select | ENSP00000369497.3:p.Asn3164Ile | |
| ENST00000544455.6:c.9491A>T | ENSP00000439902.1:p.Asn3164Ile | |
| ENST00000614259.2:c.9499A>T | ENSP00000506251.1:n.9499A>T | |
| ENST00000665585.1:c.2369A>T | ||
| ENST00000666593.1:c.513A>T | ENSP00000499256.1:n.513A>T | |
| ENST00000680887.1:c.9491A>T | ENSP00000505508.1:p.Asn3164Ile | |
| ENST00000380152.7:c.9491A>T | ENSP00000369497.3:p.Asn3164Ile | |
| ENST00000470094.1:c.448A>T | ||
| ENST00000544455.5:c.9491A>T | ENSP00000439902.1:p.Asn3164Ile | |
| NM_000059.3:c.9491A>T , LRG_293t1:c.9491A>T | NP_000050.2:p.Asn3164Ile | |
| XM_011535203.1:c.9491A>T | XP_011533505.1:p.Asn3164Ile | |
| XM_011535204.1:c.9395A>T | XP_011533506.1:p.Asn3132Ile | |
| NM_000059.4:c.9491A>T MANE Select | NP_000050.3:p.Asn3164Ile |