Revel Score:
ENST00000374708
0.777
ENST00000341947 (MANE Select)
0.777
ENST00000357486
0.777
ENST00000374714
0.777
ENST00000374713
0.777
ENST00000395197
0.777
ENST00000374712
0.777
ENST00000361917
0.777
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000876 (SAS)
Exomes Max Group AF
0.00000925 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33174541G>A , CM000668.2:g.33174541G>A | GRCh38 |
| NC_000006.11:g.33142318G>A , CM000668.1:g.33142318G>A | GRCh37 |
| NC_000006.10:g.33250296G>A | NCBI36 |
| NG_011589.1:g.22928C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.989C>T | ||
| ENST00000341947.7:c.2416C>T MANE Select | ENSP00000339915.2:p.Arg806Cys | |
| ENST00000341947.6:c.2416C>T | ENSP00000339915.2:p.Arg806Cys | |
| ENST00000361917.5:c.2095C>T | ENSP00000355123.1:p.Arg699Cys | |
| ENST00000374708.8:c.2158C>T | ENSP00000363840.4:p.Arg720Cys | |
| ENST00000477772.1:n.272+2468C>T | ||
| NM_080679.2:c.2095C>T | NP_542410.2:p.Arg699Cys | |
| NM_080680.2:c.2416C>T | NP_542411.2:p.Arg806Cys | |
| NM_080681.2:c.2158C>T | NP_542412.2:p.Arg720Cys | |
| XM_011514298.1:c.1570C>T | XP_011512600.1:p.Arg524Cys | |
| XM_011514299.1:c.1702C>T | XP_011512601.1:p.Arg568Cys | |
| XM_011514300.1:c.1522C>T | XP_011512602.1:p.Arg508Cys | |
| XM_011514301.1:c.1459C>T | XP_011512603.1:p.Arg487Cys | |
| XM_011514302.1:c.1303C>T | XP_011512604.1:p.Arg435Cys | |
| XM_011514299.2:c.1702C>T | XP_011512601.1:p.Arg568Cys | |
| XM_011514300.2:c.1522C>T | XP_011512602.1:p.Arg508Cys | |
| XM_011514302.2:c.1303C>T | XP_011512604.1:p.Arg435Cys | |
| XM_017010250.1:c.2416C>T | XP_016865739.1:p.Arg806Cys | |
| XM_017010251.2:c.1234C>T | XP_016865740.1:p.Arg412Cys | |
| NM_080680.3:c.2416C>T MANE Select | NP_542411.2:p.Arg806Cys | |
| NM_080681.3:c.2158C>T | NP_542412.2:p.Arg720Cys | |
| NM_080679.3:c.2095C>T | NP_542410.2:p.Arg699Cys |