Revel Score:
ENST00000226578
0.092
ENST00000505239
0.092
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004524 (NFE)
Genomes Max Group AF
0.00000802 (AFR)
Exomes Max Group AF
0.00004627 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102635920G>C , CM000666.2:g.102635920G>C | GRCh38 |
| NC_000004.11:g.103557077G>C , CM000666.1:g.103557077G>C | GRCh37 |
| NC_000004.10:g.103776125G>C | NCBI36 |
| NG_012804.1:g.130075C>G | |
| NG_012804.2:g.130075C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642252.1:c.2240C>G | ENSP00000495483.1:p.Thr747Arg | |
| ENST00000644159.1:c.2102C>G | ENSP00000494462.1:p.Thr701Arg | |
| ENST00000644545.1:c.*742C>G | ENSP00000493992.1:n.*742C>G | |
| ENST00000645348.1:c.*1124C>G | ENSP00000495363.1:n.*1124C>G | |
| ENST00000645558.1:c.1770C>G | ||
| ENST00000646311.1:c.*1222C>G | ENSP00000493465.1:n.*1222C>G | |
| ENST00000646727.1:c.*956C>G | ENSP00000493519.1:n.*956C>G | |
| ENST00000647097.2:c.2102C>G MANE Select | ENSP00000495247.1:p.Thr701Arg | |
| ENST00000647129.1:c.2191C>G | ENSP00000496137.1:n.2191C>G | |
| ENST00000226578.8:c.2102C>G | ENSP00000226578.4:p.Thr701Arg | |
| ENST00000505239.1:c.1931C>G | ENSP00000427322.1:p.Thr644Arg | |
| ENST00000508141.1:n.535C>G | ||
| ENST00000514430.5:n.6337C>G | ||
| NM_005908.3:c.2102C>G | NP_005899.3:p.Thr701Arg | |
| XM_011531965.1:c.1196C>G | XP_011530267.1:p.Thr399Arg | |
| XM_011531966.1:c.857C>G | XP_011530268.1:p.Thr286Arg | |
| XM_017008203.1:c.1739C>G | XP_016863692.1:p.Thr580Arg | |
| XM_017008204.2:c.1454C>G | XP_016863693.1:p.Thr485Arg | |
| XM_017008205.2:c.896C>G | XP_016863694.1:p.Thr299Arg | |
| XM_024454048.1:c.2027C>G | XP_024309816.1:p.Thr676Arg | |
| XM_024454049.1:c.1739C>G | XP_024309817.1:p.Thr580Arg | |
| NM_005908.4:c.2102C>G MANE Select | NP_005899.3:p.Thr701Arg |