Revel Score:
ENST00000262464 (MANE Select)
0.884
ENST00000508053
0.884
ENST00000507835
0.884
ENST00000508989
0.884
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335459A>C , CM000667.2:g.128335459A>C | GRCh38 |
| NC_000005.9:g.127671151A>C , CM000667.1:g.127671151A>C | GRCh37 |
| NC_000005.8:g.127699050A>C | NCBI36 |
| NG_008750.1:g.207585T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.627T>G | ||
| ENST00000703785.1:n.708T>G | ||
| ENST00000262464.9:c.3843T>G MANE Select | ENSP00000262464.4:p.Cys1281Trp | |
| ENST00000262464.8:c.3843T>G | ENSP00000262464.4:p.Cys1281Trp | |
| ENST00000507835.5:c.393T>G | ENSP00000426839.1:p.Cys131Trp | |
| ENST00000508053.5:c.3843T>G | ENSP00000424571.1:p.Cys1281Trp | |
| ENST00000508989.5:c.3744T>G | ENSP00000425596.1:p.Cys1248Trp | |
| ENST00000619499.4:c.3840T>G | ENSP00000482132.1:p.Cys1280Trp | |
| NM_001999.3:c.3843T>G | NP_001990.2:p.Cys1281Trp | |
| XM_017009228.2:c.3690T>G | XP_016864717.1:p.Cys1230Trp | |
| NM_001999.4:c.3843T>G MANE Select | NP_001990.2:p.Cys1281Trp |