Revel Score:
ENST00000444303
0.849
ENST00000396554
0.849
ENST00000396553 (MANE Select)
0.849
ENST00000528723
0.849
ENST00000529507
0.849
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00772129 (EAS)
Genomes Max Group AF
0.00287113 (EAS)
Exomes Max Group AF
0.00819981 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10500245C>T , CM000673.2:g.10500245C>T | GRCh38 |
| NC_000011.9:g.10521792C>T , CM000673.1:g.10521792C>T | GRCh37 |
| NC_000011.8:g.10478368C>T | NCBI36 |
| NG_012041.1:g.54569C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396553.7:c.1717C>T MANE Select | ENSP00000379801.2:p.Arg573Cys | |
| ENST00000396553.6:c.1717C>T | ENSP00000379801.2:p.Arg573Cys | |
| ENST00000396554.7:c.1744C>T | ENSP00000379802.3:p.Arg582Cys | |
| ENST00000444303.6:c.1240C>T | ENSP00000396000.2:p.Arg414Cys | |
| ENST00000528723.5:c.1738C>T | ENSP00000436987.1:p.Arg580Cys | |
| ENST00000529507.5:c.1717C>T | ENSP00000431648.1:p.Arg573Cys | |
| ENST00000529744.1:c.61C>T | ENSP00000434608.1:p.Arg21Cys | |
| ENST00000529834.5:c.1717C>T | ENSP00000435382.1:p.Arg573Cys | |
| ENST00000530864.1:n.308C>T | ||
| ENST00000534047.5:c.*1070C>T | ENSP00000433937.1:n.*1070C>T | |
| NM_000480.2:c.1744C>T | NP_000471.1:p.Arg582Cys | |
| NM_001025389.1:c.1717C>T | NP_001020560.1:p.Arg573Cys | |
| NM_001025390.1:c.1738C>T | NP_001020561.1:p.Arg580Cys | |
| NM_001172430.1:c.1717C>T | NP_001165901.1:p.Arg573Cys | |
| NM_001172431.1:c.1240C>T | NP_001165902.1:p.Arg414Cys | |
| NM_000480.3:c.1744C>T | NP_000471.1:p.Arg582Cys | |
| NM_001025389.2:c.1717C>T MANE Select | NP_001020560.1:p.Arg573Cys | |
| NM_001025390.2:c.1738C>T | NP_001020561.1:p.Arg580Cys | |
| NM_001172431.2:c.1240C>T | NP_001165902.1:p.Arg414Cys |