Revel Score:
ENST00000347559
0.432
ENST00000368300 (MANE Select)
0.432
ENST00000448611
0.432
ENST00000473598
0.432
ENST00000508500
0.432
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156138611G>T , CM000663.2:g.156138611G>T | GRCh38 |
| NC_000001.10:g.156108402G>T , CM000663.1:g.156108402G>T | GRCh37 |
| NC_000001.9:g.154375026G>T | NCBI36 |
| NG_008692.2:g.61039G>T , LRG_254:g.61039G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1264G>T | ENSP00000426535.3:p.Gly422Cys | |
| ENST00000682650.1:c.1732G>T | ENSP00000506904.1:p.Gly578Cys | |
| ENST00000683032.1:c.1822G>T | ENSP00000506771.1:p.Gly608Cys | |
| ENST00000683773.1:n.163+4G>T | ||
| ENST00000684195.1:c.*914G>T | ENSP00000508220.1:n.*914G>T | |
| ENST00000361308.9:c.1822G>T | ENSP00000355292.6:p.Gly608Cys | |
| ENST00000368300.9:c.1822G>T MANE Select | ENSP00000357283.4:p.Gly608Cys | |
| ENST00000674518.1:c.*1172G>T | ENSP00000502261.1:n.*1172G>T | |
| ENST00000674600.1:c.*1621G>T | ENSP00000501666.1:n.*1621G>T | |
| ENST00000675455.1:c.*1622G>T | ENSP00000501795.1:n.*1622G>T | |
| ENST00000675667.1:c.1822G>T | ENSP00000501803.1:p.Gly608Cys | |
| ENST00000675874.1:c.*1293G>T | ENSP00000501851.1:n.*1293G>T | |
| ENST00000675881.1:c.*833G>T | ENSP00000501670.1:n.*833G>T | |
| ENST00000675939.1:c.1822G>T | ENSP00000502256.1:p.Gly608Cys | |
| ENST00000675989.1:n.3425G>T | ||
| ENST00000676208.1:c.*925G>T | ENSP00000502468.1:n.*925G>T | |
| ENST00000676385.2:c.1732G>T | ENSP00000502091.1:p.Gly578Cys | |
| ENST00000676434.1:c.*1577G>T | ENSP00000501648.1:n.*1577G>T | |
| ENST00000347559.6:c.1732G>T | ENSP00000292304.3:p.Gly578Cys | |
| ENST00000368299.7:c.1818+4G>T | ENSP00000357282.3:n.1818+4G>T | |
| ENST00000368300.8:c.1822G>T | ENSP00000357283.4:p.Gly608Cys | |
| ENST00000448611.6:c.1486G>T | ENSP00000395597.2:p.Gly496Cys | |
| ENST00000473598.6:c.1525G>T | ENSP00000421821.1:p.Gly509Cys | |
| ENST00000496738.5:n.2035G>T | ||
| ENST00000506981.1:n.406G>T | ||
| ENST00000508500.1:c.610G>T | ENSP00000424977.1:p.Gly204Cys | |
| NM_001257374.2:c.1486G>T | NP_001244303.1:p.Gly496Cys | |
| NM_001282626.1:c.1818+4G>T | NP_001269555.1:n.1818+4G>T | |
| NM_170707.3:c.1822G>T | NP_733821.1:p.Gly608Cys | |
| NM_170708.3:c.1732G>T | NP_733822.1:p.Gly578Cys | |
| XM_011509533.1:c.1486G>T | XP_011507835.1:p.Gly496Cys | |
| XM_011509534.1:c.1198G>T | XP_011507836.1:p.Gly400Cys | |
| XR_921781.1:n.2111G>T | ||
| XM_011509534.2:c.1198G>T | XP_011507836.1:p.Gly400Cys | |
| XR_921781.2:n.2109G>T | ||
| NM_170707.4:c.1822G>T MANE Select | NP_733821.1:p.Gly608Cys | |
| NM_001257374.3:c.1486G>T | NP_001244303.1:p.Gly496Cys | |
| NM_001282626.2:c.1818+4G>T | NP_001269555.1:n.1818+4G>T | |
| NM_170708.4:c.1732G>T | NP_733822.1:p.Gly578Cys |