Revel Score:
ENST00000544984
0.963
ENST00000374690 (MANE Select)
0.963
ENST00000396043
0.963
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67717562G>T , CM000685.2:g.67717562G>T | GRCh38 |
| NC_000023.10:g.66937404G>T , CM000685.1:g.66937404G>T | GRCh37 |
| NC_000023.9:g.66854129G>T | NCBI36 |
| NG_009014.2:g.178531G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*606G>T | ENSP00000379358.4:n.*606G>T | |
| ENST00000374690.9:c.2258G>T MANE Select | ENSP00000363822.3:p.Arg753Leu | |
| ENST00000396043.3:c.885G>T | ENSP00000379358.3:n.885G>T | |
| ENST00000396044.8:c.2173+5873G>T | ENSP00000379359.3:n.2173+5873G>T | |
| ENST00000612452.5:c.2258G>T | ENSP00000484033.2:p.Arg753Leu | |
| ENST00000374690.7:c.2258G>T | ENSP00000363822.3:p.Arg753Leu | |
| ENST00000396043.2:c.662G>T | ENSP00000379358.2:p.Arg221Leu | |
| ENST00000396044.7:c.2173+5873G>T | ENSP00000379359.3:n.2173+5873G>T | |
| ENST00000612452.4:c.1688G>T | ENSP00000484033.1:p.Arg563Leu | |
| NM_000044.3:c.2258G>T | NP_000035.2:p.Arg753Leu | |
| NM_001011645.2:c.662G>T | NP_001011645.1:p.Arg221Leu | |
| NM_000044.4:c.2258G>T | NP_000035.2:p.Arg753Leu | |
| NM_001011645.3:c.662G>T | NP_001011645.1:p.Arg221Leu | |
| NM_000044.6:c.2258G>T MANE Select | NP_000035.2:p.Arg753Leu |