Revel Score:
ENST00000368148
0.055
ENST00000368147
0.055
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158614301A>T , CM000663.2:g.158614301A>T | GRCh38 |
| NC_000001.10:g.158584091A>T , CM000663.1:g.158584091A>T | GRCh37 |
| NC_000001.9:g.156850715A>T | NCBI36 |
| NG_011474.1:g.77416T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.6794T>A MANE Select | ENSP00000495214.1:p.Ile2265Asn | |
| ENST00000368147.8:c.6794T>A | ENSP00000357129.4:p.Ile2265Asn | |
| ENST00000481212.5:n.235T>A | ||
| ENST00000498708.1:n.226T>A | ||
| ENST00000614909.4:c.6794T>A | ENSP00000482595.1:p.Ile2265Asn | |
| NM_003126.2:c.6794T>A | NP_003117.2:p.Ile2265Asn | |
| XM_011509916.1:c.6794T>A | XP_011508218.1:p.Ile2265Asn | |
| XM_011509917.1:c.6776T>A | XP_011508219.1:p.Ile2259Asn | |
| NM_003126.3:c.6794T>A | NP_003117.2:p.Ile2265Asn | |
| XM_011509916.2:c.6794T>A | XP_011508218.1:p.Ile2265Asn | |
| XM_011509917.3:c.6776T>A | XP_011508219.1:p.Ile2259Asn | |
| NM_003126.4:c.6794T>A MANE Select | NP_003117.2:p.Ile2265Asn |