Revel Score:
ENST00000262464 (MANE Select)
0.636
ENST00000508053
0.636
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128263561A>G , CM000667.2:g.128263561A>G | GRCh38 |
| NC_000005.9:g.127599253A>G , CM000667.1:g.127599253A>G | GRCh37 |
| NC_000005.8:g.127627152A>G | NCBI36 |
| NG_008750.1:g.279483T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703782.1:n.171T>C | ||
| ENST00000262464.9:c.8056T>C MANE Select | ENSP00000262464.4:p.Phe2686Leu | |
| ENST00000262464.8:c.8056T>C | ENSP00000262464.4:p.Phe2686Leu | |
| ENST00000508053.5:c.8056T>C | ENSP00000424571.1:p.Phe2686Leu | |
| ENST00000619499.4:c.8053T>C | ENSP00000482132.1:p.Phe2685Leu | |
| NM_001999.3:c.8056T>C | NP_001990.2:p.Phe2686Leu | |
| XM_017009228.2:c.7903T>C | XP_016864717.1:p.Phe2635Leu | |
| NM_001999.4:c.8056T>C MANE Select | NP_001990.2:p.Phe2686Leu |