Revel Score:
ENST00000262464 (MANE Select)
0.826
ENST00000508053
0.826
ENST00000507835
0.826
ENST00000508989
0.826
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335548C>G , CM000667.2:g.128335548C>G | GRCh38 |
| NC_000005.9:g.127671240C>G , CM000667.1:g.127671240C>G | GRCh37 |
| NC_000005.8:g.127699139C>G | NCBI36 |
| NG_008750.1:g.207496G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.538G>C | ||
| ENST00000703785.1:n.619G>C | ||
| ENST00000262464.9:c.3754G>C MANE Select | ENSP00000262464.4:p.Gly1252Arg | |
| ENST00000262464.8:c.3754G>C | ENSP00000262464.4:p.Gly1252Arg | |
| ENST00000507835.5:c.304G>C | ENSP00000426839.1:p.Gly102Arg | |
| ENST00000508053.5:c.3754G>C | ENSP00000424571.1:p.Gly1252Arg | |
| ENST00000508989.5:c.3655G>C | ENSP00000425596.1:p.Gly1219Arg | |
| ENST00000619499.4:c.3751G>C | ENSP00000482132.1:p.Gly1251Arg | |
| NM_001999.3:c.3754G>C | NP_001990.2:p.Gly1252Arg | |
| XM_017009228.2:c.3601G>C | XP_016864717.1:p.Gly1201Arg | |
| NM_001999.4:c.3754G>C MANE Select | NP_001990.2:p.Gly1252Arg |