Revel Score:
ENST00000262464 (MANE Select)
0.290
ENST00000508053
0.290
ENST00000507835
0.290
ENST00000508989
0.290
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335458C>A , CM000667.2:g.128335458C>A | GRCh38 |
| NC_000005.9:g.127671150C>A , CM000667.1:g.127671150C>A | GRCh37 |
| NC_000005.8:g.127699049C>A | NCBI36 |
| NG_008750.1:g.207586G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.628G>T | ||
| ENST00000703785.1:n.709G>T | ||
| ENST00000262464.9:c.3844G>T MANE Select | ENSP00000262464.4:p.Ala1282Ser | |
| ENST00000262464.8:c.3844G>T | ENSP00000262464.4:p.Ala1282Ser | |
| ENST00000507835.5:c.394G>T | ENSP00000426839.1:p.Ala132Ser | |
| ENST00000508053.5:c.3844G>T | ENSP00000424571.1:p.Ala1282Ser | |
| ENST00000508989.5:c.3745G>T | ENSP00000425596.1:p.Ala1249Ser | |
| ENST00000619499.4:c.3841G>T | ENSP00000482132.1:p.Ala1281Ser | |
| NM_001999.3:c.3844G>T | NP_001990.2:p.Ala1282Ser | |
| XM_017009228.2:c.3691G>T | XP_016864717.1:p.Ala1231Ser | |
| NM_001999.4:c.3844G>T MANE Select | NP_001990.2:p.Ala1282Ser |