Revel Score:
ENST00000262464 (MANE Select)
0.526
ENST00000508053
0.526
ENST00000507835
0.526
ENST00000508989
0.526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335556A>C , CM000667.2:g.128335556A>C | GRCh38 |
| NC_000005.9:g.127671248A>C , CM000667.1:g.127671248A>C | GRCh37 |
| NC_000005.8:g.127699147A>C | NCBI36 |
| NG_008750.1:g.207488T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.530T>G | ||
| ENST00000703785.1:n.611T>G | ||
| ENST00000262464.9:c.3746T>G MANE Select | ENSP00000262464.4:p.Met1249Arg | |
| ENST00000262464.8:c.3746T>G | ENSP00000262464.4:p.Met1249Arg | |
| ENST00000507835.5:c.296T>G | ENSP00000426839.1:p.Met99Arg | |
| ENST00000508053.5:c.3746T>G | ENSP00000424571.1:p.Met1249Arg | |
| ENST00000508989.5:c.3647T>G | ENSP00000425596.1:p.Met1216Arg | |
| ENST00000619499.4:c.3743T>G | ENSP00000482132.1:p.Met1248Arg | |
| NM_001999.3:c.3746T>G | NP_001990.2:p.Met1249Arg | |
| XM_017009228.2:c.3593T>G | XP_016864717.1:p.Met1198Arg | |
| NM_001999.4:c.3746T>G MANE Select | NP_001990.2:p.Met1249Arg |