Revel Score:
ENST00000504073
0.202
ENST00000344627
0.792
ENST00000262018 (MANE Select)
0.792
ENST00000543315
0.792
ENST00000451235
0.792
ENST00000511303
0.792
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00039853 (AMR)
Genomes Max Group AF
0.00086548 (AMR)
Exomes Max Group AF
0.0001396 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50168529C>T , CM000679.2:g.50168529C>T | GRCh38 |
| NC_000017.10:g.48245890C>T , CM000679.1:g.48245890C>T | GRCh37 |
| NC_000017.9:g.45600889C>T | NCBI36 |
| NG_008889.1:g.7525C>T , LRG_203:g.7525C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.541C>T | ENSP00000422030.2:p.Arg181Cys | |
| ENST00000511303.6:n.266C>T | ||
| ENST00000512526.2:c.532C>T | ENSP00000426606.2:n.532C>T | |
| ENST00000682109.1:c.421C>T | ENSP00000508041.1:p.Arg141Cys | |
| ENST00000683226.1:n.251C>T | ||
| ENST00000683294.1:c.541C>T | ENSP00000508134.1:p.Arg181Cys | |
| ENST00000262018.8:c.541C>T MANE Select | ENSP00000262018.3:p.Arg181Cys | |
| ENST00000262018.7:c.541C>T | ENSP00000262018.3:p.Arg181Cys | |
| ENST00000344627.10:c.541C>T | ENSP00000345522.6:p.Arg181Cys | |
| ENST00000502555.5:c.*200C>T | ENSP00000422817.1:n.*200C>T | |
| ENST00000504073.1:c.8C>T | ||
| ENST00000511303.5:c.262C>T | ENSP00000426104.1:p.Arg88Cys | |
| ENST00000512526.1:c.376C>T | ||
| ENST00000513821.5:c.541C>T | ENSP00000426571.1:p.Arg181Cys | |
| ENST00000513942.5:n.332C>T | ||
| ENST00000514934.1:c.*247C>T | ENSP00000423168.1:n.*247C>T | |
| NM_000023.2:c.541C>T , LRG_203t1:c.541C>T | NP_000014.1:p.Arg181Cys | |
| NM_001135697.1:c.541C>T | NP_001129169.1:p.Arg181Cys | |
| XM_011525120.1:c.541C>T | XP_011523422.1:p.Arg181Cys | |
| XM_011525121.1:c.541C>T | XP_011523423.1:p.Arg181Cys | |
| XM_011525122.1:c.541C>T | XP_011523424.1:p.Arg181Cys | |
| XM_011525123.1:c.541C>T | XP_011523425.1:p.Arg181Cys | |
| XM_011525124.1:c.235C>T | XP_011523426.1:p.Arg79Cys | |
| XR_934517.1:n.607C>T | ||
| NM_000023.3:c.541C>T | NP_000014.1:p.Arg181Cys | |
| NM_001135697.2:c.541C>T | NP_001129169.1:p.Arg181Cys | |
| NR_135553.1:n.597C>T | ||
| XM_011525120.2:c.703C>T | XP_011523422.2:p.Arg235Cys | |
| XM_011525121.2:c.703C>T | XP_011523423.2:p.Arg235Cys | |
| XM_011525122.2:c.703C>T | XP_011523424.2:p.Arg235Cys | |
| XM_011525123.2:c.703C>T | XP_011523425.2:p.Arg235Cys | |
| XM_011525124.2:c.235C>T | XP_011523426.1:p.Arg79Cys | |
| XM_024450873.1:c.235C>T | XP_024306641.1:p.Arg79Cys | |
| XR_002958056.1:n.1059C>T | ||
| NM_000023.4:c.541C>T MANE Select | NP_000014.1:p.Arg181Cys | |
| NM_001135697.3:c.541C>T | NP_001129169.1:p.Arg181Cys | |
| NR_135553.2:n.577C>T |