Revel Score:
ENST00000427500
0.615
ENST00000428024
0.615
ENST00000368373 (MANE Select)
0.615
ENST00000327247
0.615
ENST00000536770
0.615
ENST00000536555
0.615
ENST00000402928
0.615
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001287 (SAS)
Exomes Max Group AF
0.00001335 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155235003G>A , CM000663.2:g.155235003G>A | GRCh38 |
| NC_000001.10:g.155204794G>A , CM000663.1:g.155204794G>A | GRCh37 |
| NC_000001.9:g.153471418G>A | NCBI36 |
| NG_009783.1:g.14695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.1603C>T MANE Select | ENSP00000357357.3:p.Arg535Cys | |
| ENST00000327247.9:c.1603C>T | ENSP00000314508.5:p.Arg535Cys | |
| ENST00000368373.7:c.1603C>T | ENSP00000357357.3:p.Arg535Cys | |
| ENST00000427500.7:c.1456C>T | ENSP00000402577.2:p.Arg486Cys | |
| ENST00000428024.3:c.1342C>T | ENSP00000397986.2:p.Arg448Cys | |
| ENST00000464536.1:n.191-182C>T | ||
| ENST00000478472.1:n.963C>T | ||
| NM_000157.3:c.1603C>T | NP_000148.2:p.Arg535Cys | |
| NM_001005741.2:c.1603C>T | NP_001005741.1:p.Arg535Cys | |
| NM_001005742.2:c.1603C>T | NP_001005742.1:p.Arg535Cys | |
| NM_001171811.1:c.1342C>T | NP_001165282.1:p.Arg448Cys | |
| NM_001171812.1:c.1456C>T | NP_001165283.1:p.Arg486Cys | |
| XM_006711270.1:c.1603C>T | XP_006711333.1:p.Arg535Cys | |
| XM_011509407.1:c.1603C>T | XP_011507709.1:p.Arg535Cys | |
| NM_000157.4:c.1603C>T MANE Select | NP_000148.2:p.Arg535Cys | |
| NM_001005741.3:c.1603C>T | NP_001005741.1:p.Arg535Cys | |
| NM_001005742.3:c.1603C>T | NP_001005742.1:p.Arg535Cys | |
| NM_001171811.2:c.1342C>T | NP_001165282.1:p.Arg448Cys | |
| NM_001171812.2:c.1456C>T | NP_001165283.1:p.Arg486Cys |