Revel Score:
ENST00000262464 (MANE Select)
0.926
ENST00000508053
0.926
ENST00000507835
0.926
ENST00000508989
0.926
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335460C>T , CM000667.2:g.128335460C>T | GRCh38 |
| NC_000005.9:g.127671152C>T , CM000667.1:g.127671152C>T | GRCh37 |
| NC_000005.8:g.127699051C>T | NCBI36 |
| NG_008750.1:g.207584G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.626G>A | ||
| ENST00000703785.1:n.707G>A | ||
| ENST00000262464.9:c.3842G>A MANE Select | ENSP00000262464.4:p.Cys1281Tyr | |
| ENST00000262464.8:c.3842G>A | ENSP00000262464.4:p.Cys1281Tyr | |
| ENST00000507835.5:c.392G>A | ENSP00000426839.1:p.Cys131Tyr | |
| ENST00000508053.5:c.3842G>A | ENSP00000424571.1:p.Cys1281Tyr | |
| ENST00000508989.5:c.3743G>A | ENSP00000425596.1:p.Cys1248Tyr | |
| ENST00000619499.4:c.3839G>A | ENSP00000482132.1:p.Cys1280Tyr | |
| NM_001999.3:c.3842G>A | NP_001990.2:p.Cys1281Tyr | |
| XM_017009228.2:c.3689G>A | XP_016864717.1:p.Cys1230Tyr | |
| NM_001999.4:c.3842G>A MANE Select | NP_001990.2:p.Cys1281Tyr |