Revel Score:
ENST00000344327 (MANE Select)
0.388
ENST00000532133
0.388
ENST00000348423
0.388
ENST00000360497
0.388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101469456G>A , CM000673.2:g.101469456G>A | GRCh38 |
| NC_000011.9:g.101340187G>A , CM000673.1:g.101340187G>A | GRCh37 |
| NC_000011.8:g.100845397G>A | NCBI36 |
| NG_011476.1:g.119473C>T | |
| NG_011476.2:g.119473C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.2455C>T MANE Select | ENSP00000340913.3:p.Leu819Phe | |
| ENST00000344327.7:c.2455C>T | ENSP00000340913.3:p.Leu819Phe | |
| ENST00000348423.8:c.2107C>T | ENSP00000343672.4:p.Leu703Phe | |
| ENST00000360497.4:c.2290C>T | ENSP00000353687.4:p.Leu764Phe | |
| ENST00000532133.5:c.2221C>T | ENSP00000435574.1:p.Leu741Phe | |
| NM_004621.5:c.2455C>T | NP_004612.2:p.Leu819Phe | |
| XM_006718898.2:c.2409+1727C>T | XP_006718961.1:n.2409+1727C>T | |
| XM_011542968.1:c.2290C>T | XP_011541270.1:p.Leu764Phe | |
| XM_011542969.1:c.2455C>T | XP_011541271.1:p.Leu819Phe | |
| XM_011542968.3:c.2290C>T | XP_011541270.1:p.Leu764Phe | |
| XM_017018221.2:c.2107C>T | XP_016873710.1:p.Leu703Phe | |
| XR_001747948.2:n.2811C>T | ||
| NM_004621.6:c.2455C>T MANE Select | NP_004612.2:p.Leu819Phe |