Revel Score:
ENST00000262464 (MANE Select)
0.932
ENST00000508053
0.932
ENST00000507835
0.932
ENST00000508989
0.932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335460C>A , CM000667.2:g.128335460C>A | GRCh38 |
| NC_000005.9:g.127671152C>A , CM000667.1:g.127671152C>A | GRCh37 |
| NC_000005.8:g.127699051C>A | NCBI36 |
| NG_008750.1:g.207584G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.626G>T | ||
| ENST00000703785.1:n.707G>T | ||
| ENST00000262464.9:c.3842G>T MANE Select | ENSP00000262464.4:p.Cys1281Phe | |
| ENST00000262464.8:c.3842G>T | ENSP00000262464.4:p.Cys1281Phe | |
| ENST00000507835.5:c.392G>T | ENSP00000426839.1:p.Cys131Phe | |
| ENST00000508053.5:c.3842G>T | ENSP00000424571.1:p.Cys1281Phe | |
| ENST00000508989.5:c.3743G>T | ENSP00000425596.1:p.Cys1248Phe | |
| ENST00000619499.4:c.3839G>T | ENSP00000482132.1:p.Cys1280Phe | |
| NM_001999.3:c.3842G>T | NP_001990.2:p.Cys1281Phe | |
| XM_017009228.2:c.3689G>T | XP_016864717.1:p.Cys1230Phe | |
| NM_001999.4:c.3842G>T MANE Select | NP_001990.2:p.Cys1281Phe |