Revel Score:
ENST00000262464 (MANE Select)
0.710
ENST00000508053
0.710
ENST00000507835
0.710
ENST00000508989
0.710
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335464A>G , CM000667.2:g.128335464A>G | GRCh38 |
| NC_000005.9:g.127671156A>G , CM000667.1:g.127671156A>G | GRCh37 |
| NC_000005.8:g.127699055A>G | NCBI36 |
| NG_008750.1:g.207580T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.622T>C | ||
| ENST00000703785.1:n.703T>C | ||
| ENST00000262464.9:c.3838T>C MANE Select | ENSP00000262464.4:p.Ser1280Pro | |
| ENST00000262464.8:c.3838T>C | ENSP00000262464.4:p.Ser1280Pro | |
| ENST00000507835.5:c.388T>C | ENSP00000426839.1:p.Ser130Pro | |
| ENST00000508053.5:c.3838T>C | ENSP00000424571.1:p.Ser1280Pro | |
| ENST00000508989.5:c.3739T>C | ENSP00000425596.1:p.Ser1247Pro | |
| ENST00000619499.4:c.3835T>C | ENSP00000482132.1:p.Ser1279Pro | |
| NM_001999.3:c.3838T>C | NP_001990.2:p.Ser1280Pro | |
| XM_017009228.2:c.3685T>C | XP_016864717.1:p.Ser1229Pro | |
| NM_001999.4:c.3838T>C MANE Select | NP_001990.2:p.Ser1280Pro |