Revel Score:
ENST00000262464 (MANE Select)
0.950
ENST00000508053
0.950
ENST00000507835
0.950
ENST00000508989
0.950
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335545A>T , CM000667.2:g.128335545A>T | GRCh38 |
| NC_000005.9:g.127671237A>T , CM000667.1:g.127671237A>T | GRCh37 |
| NC_000005.8:g.127699136A>T | NCBI36 |
| NG_008750.1:g.207499T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.541T>A | ||
| ENST00000703785.1:n.622T>A | ||
| ENST00000262464.9:c.3757T>A MANE Select | ENSP00000262464.4:p.Cys1253Ser | |
| ENST00000262464.8:c.3757T>A | ENSP00000262464.4:p.Cys1253Ser | |
| ENST00000507835.5:c.307T>A | ENSP00000426839.1:p.Cys103Ser | |
| ENST00000508053.5:c.3757T>A | ENSP00000424571.1:p.Cys1253Ser | |
| ENST00000508989.5:c.3658T>A | ENSP00000425596.1:p.Cys1220Ser | |
| ENST00000619499.4:c.3754T>A | ENSP00000482132.1:p.Cys1252Ser | |
| NM_001999.3:c.3757T>A | NP_001990.2:p.Cys1253Ser | |
| XM_017009228.2:c.3604T>A | XP_016864717.1:p.Cys1202Ser | |
| NM_001999.4:c.3757T>A MANE Select | NP_001990.2:p.Cys1253Ser |