Revel Score:
ENST00000344327 (MANE Select)
0.910
ENST00000532133
0.910
ENST00000348423
0.910
ENST00000360497
0.910
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101453068G>A , CM000673.2:g.101453068G>A | GRCh38 |
| NC_000011.9:g.101323799G>A , CM000673.1:g.101323799G>A | GRCh37 |
| NC_000011.8:g.100829009G>A | NCBI36 |
| NG_011476.1:g.135861C>T | |
| NG_011476.2:g.135861C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.2683C>T MANE Select | ENSP00000340913.3:p.Arg895Cys | |
| ENST00000344327.7:c.2683C>T | ENSP00000340913.3:p.Arg895Cys | |
| ENST00000348423.8:c.2335C>T | ENSP00000343672.4:p.Arg779Cys | |
| ENST00000360497.4:c.2518C>T | ENSP00000353687.4:p.Arg840Cys | |
| ENST00000532133.5:c.2449C>T | ENSP00000435574.1:p.Arg817Cys | |
| NM_004621.5:c.2683C>T | NP_004612.2:p.Arg895Cys | |
| XM_006718898.2:c.2608C>T | XP_006718961.1:p.Arg870Cys | |
| XM_011542968.1:c.2518C>T | XP_011541270.1:p.Arg840Cys | |
| XM_011542968.3:c.2518C>T | XP_011541270.1:p.Arg840Cys | |
| XM_017018221.2:c.2335C>T | XP_016873710.1:p.Arg779Cys | |
| XR_001747948.2:n.3040C>T | ||
| NM_004621.6:c.2683C>T MANE Select | NP_004612.2:p.Arg895Cys |