Revel Score:
ENST00000374552 (MANE Select)
0.788
ENST00000374553
0.788
ENST00000524573
0.788
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70035434G>T , CM000685.2:g.70035434G>T | GRCh38 |
| NC_000023.10:g.69255284G>T , CM000685.1:g.69255284G>T | GRCh37 |
| NC_000023.9:g.69172009G>T | NCBI36 |
| NG_009809.1:g.424374G>T | |
| NG_009809.2:g.424368G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.1001G>T MANE Select | ENSP00000363680.4:p.Arg334Leu | |
| ENST00000374552.8:c.1001G>T | ENSP00000363680.4:p.Arg334Leu | |
| ENST00000374553.6:c.995G>T | ENSP00000363681.2:p.Arg332Leu | |
| ENST00000524573.5:c.986G>T | ENSP00000432585.1:p.Arg329Leu | |
| ENST00000616899.1:c.605G>T | ENSP00000481963.1:p.Arg202Leu | |
| NM_001005609.1:c.995G>T | NP_001005609.1:p.Arg332Leu | |
| NM_001005612.2:c.986G>T | NP_001005612.2:p.Arg329Leu | |
| NM_001399.4:c.1001G>T | NP_001390.1:p.Arg334Leu | |
| XM_006724630.2:c.992G>T | XP_006724693.1:p.Arg331Leu | |
| XM_017029336.1:c.959G>T | XP_016884825.1:p.Arg320Leu | |
| NM_001399.5:c.1001G>T MANE Select | NP_001390.1:p.Arg334Leu | |
| NM_001005609.2:c.995G>T | NP_001005609.1:p.Arg332Leu | |
| NM_001005612.3:c.986G>T | NP_001005612.2:p.Arg329Leu |