Revel Score:
ENST00000358023
0.873
ENST00000354729
0.873
ENST00000421865 (MANE Select)
0.873
ENST00000443169
0.873
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000386 (NFE)
Genomes Max Group AF
0.00001974 (NFE)
Exomes Max Group AF
0.00003807 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129464409T>G , CM000668.2:g.129464409T>G | GRCh38 |
| NC_000006.11:g.129785554T>G , CM000668.1:g.129785554T>G | GRCh37 |
| NC_000006.10:g.129827247T>G | NCBI36 |
| NG_008678.1:g.586269T>G , LRG_409:g.586269T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.7112T>G | ENSP00000481744.2:p.Phe2371Cys | |
| ENST00000618192.5:c.7376T>G | ENSP00000480802.2:p.Phe2459Cys | |
| ENST00000684985.1:n.743T>G | ||
| ENST00000688150.1:n.451T>G | ||
| ENST00000421865.3:c.7112T>G MANE Select | ENSP00000400365.2:p.Phe2371Cys | |
| ENST00000421865.2:c.7112T>G | ENSP00000400365.2:p.Phe2371Cys | |
| ENST00000617695.4:c.7112T>G | ENSP00000481744.1:p.Phe2371Cys | |
| ENST00000618192.4:c.7109T>G | ENSP00000480802.1:p.Phe2370Cys | |
| NM_000426.3:c.7112T>G , LRG_409t1:c.7112T>G | NP_000417.2:p.Phe2371Cys | |
| NM_001079823.1:c.7112T>G | NP_001073291.1:p.Phe2371Cys | |
| XM_005266981.2:c.7376T>G | XP_005267038.1:p.Phe2459Cys | |
| XM_005266982.2:c.7376T>G | XP_005267039.1:p.Phe2459Cys | |
| XM_011535820.1:c.7370T>G | XP_011534122.1:p.Phe2457Cys | |
| XM_005266981.3:c.7376T>G | XP_005267038.1:p.Phe2459Cys | |
| XM_005266982.3:c.7376T>G | XP_005267039.1:p.Phe2459Cys | |
| XM_011535820.2:c.7370T>G | XP_011534122.1:p.Phe2457Cys | |
| XM_017010851.2:c.7382T>G | XP_016866340.1:p.Phe2461Cys | |
| XM_017010852.1:c.5507T>G | XP_016866341.1:p.Phe1836Cys | |
| NM_000426.4:c.7112T>G MANE Select | NP_000417.3:p.Phe2371Cys | |
| NM_001079823.2:c.7112T>G | NP_001073291.2:p.Phe2371Cys |