Revel Score:
ENST00000299697
0.599
ENST00000545043
0.599
ENST00000451102
0.599
ENST00000527284
0.599
ENST00000544898 (MANE Select)
0.599
gnomAD v2:
gnomAD v3:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66536981G>A , CM000678.2:g.66536981G>A | GRCh38 |
| NC_000016.9:g.66570884G>A , CM000678.1:g.66570884G>A | GRCh37 |
| NC_000016.8:g.65128385G>A | NCBI36 |
| NG_016862.1:g.18432C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.100C>T | ENSP00000299697.9:p.Arg34Cys | |
| ENST00000417693.8:c.231+4898C>T | ENSP00000407469.5:n.231+4898C>T | |
| ENST00000451102.7:c.175C>T | ENSP00000414334.4:p.Arg59Cys | |
| ENST00000527284.6:c.212C>T | ||
| ENST00000527800.6:c.-24C>T | ENSP00000433770.1:n.-24C>T | |
| ENST00000544898.6:c.268C>T MANE Select | ENSP00000440898.2:p.Arg90Cys | |
| ENST00000567357.6:c.*126C>T | ENSP00000457959.2:n.*126C>T | |
| ENST00000569718.6:c.175C>T | ENSP00000464313.2:p.Arg59Cys | |
| ENST00000620035.5:c.193C>T | ENSP00000483833.2:p.Arg65Cys | |
| ENST00000676536.1:c.224C>T | ||
| ENST00000676538.1:c.32+11997C>T | ||
| ENST00000677420.1:c.-7+4898C>T | ENSP00000504648.1:n.-7+4898C>T | |
| ENST00000677497.1:n.37C>T | ||
| ENST00000677541.1:c.261C>T | ||
| ENST00000677555.1:c.-24C>T | ENSP00000503331.1:n.-24C>T | |
| ENST00000677715.1:c.-24C>T | ENSP00000502950.1:n.-24C>T | |
| ENST00000677739.1:c.37C>T | ENSP00000504644.1:p.Arg13Cys | |
| ENST00000678015.1:c.-24C>T | ENSP00000502959.1:n.-24C>T | |
| ENST00000678297.1:c.-24C>T | ENSP00000503472.1:n.-24C>T | |
| ENST00000678314.1:c.-24C>T | ENSP00000504438.1:n.-24C>T | |
| ENST00000678746.1:c.37C>T | ENSP00000503227.1:p.Arg13Cys | |
| ENST00000678864.1:n.132C>T | ||
| ENST00000679154.1:c.33-5512C>T | ||
| ENST00000299697.11:c.268C>T | ENSP00000299697.8:p.Arg90Cys | |
| ENST00000417693.7:c.357+4898C>T | ENSP00000407469.4:n.357+4898C>T | |
| ENST00000451102.6:c.394C>T | ENSP00000414334.3:p.Arg132Cys | |
| ENST00000525974.5:c.-24C>T | ENSP00000434594.1:n.-24C>T | |
| ENST00000527284.5:c.175C>T | ENSP00000435312.1:p.Arg59Cys | |
| ENST00000527800.5:c.-24C>T | ENSP00000433770.1:n.-24C>T | |
| ENST00000544898.5:c.268C>T | ENSP00000440898.2:p.Arg90Cys | |
| ENST00000545043.6:c.193C>T | ENSP00000438143.2:p.Arg65Cys | |
| ENST00000562484.2:c.-24C>T | ENSP00000463326.1:n.-24C>T | |
| ENST00000563369.6:c.-24C>T | ENSP00000463560.1:n.-24C>T | |
| ENST00000563478.5:c.-24C>T | ENSP00000462341.1:n.-24C>T | |
| ENST00000564917.5:c.268C>T | ENSP00000455187.1:p.Arg90Cys | |
| ENST00000567357.5:c.*126C>T | ENSP00000457959.1:n.*126C>T | |
| ENST00000569718.5:c.162C>T | ||
| ENST00000620035.4:c.231+4898C>T | ENSP00000483833.1:n.231+4898C>T | |
| NM_001172643.1:c.175C>T | NP_001166114.1:p.Arg59Cys | |
| NM_001172644.1:c.193C>T | NP_001166115.1:p.Arg65Cys | |
| NM_001172645.1:c.231+4898C>T | NP_001166116.1:n.231+4898C>T | |
| NM_001271934.1:c.121C>T | NP_001258863.1:p.Arg41Cys | |
| NM_001271935.1:c.175C>T | NP_001258864.1:p.Arg59Cys | |
| NM_001272050.1:c.-24C>T | NP_001258979.1:n.-24C>T | |
| NM_004614.4:c.268C>T | NP_004605.4:p.Arg90Cys | |
| NR_073520.1:n.1547C>T | ||
| NM_001172644.2:c.193C>T | NP_001166115.1:p.Arg65Cys | |
| NM_001271934.2:c.121C>T | NP_001258863.1:p.Arg41Cys | |
| NM_001272050.2:c.-24C>T | NP_001258979.1:n.-24C>T | |
| NM_004614.5:c.268C>T MANE Select | NP_004605.4:p.Arg90Cys | |
| NR_073520.2:n.1257C>T | ||
| NM_001172645.2:c.231+4898C>T | NP_001166116.1:n.231+4898C>T |