Revel Score:
ENST00000374708
0.805
ENST00000341947 (MANE Select)
0.805
ENST00000357486
0.805
ENST00000374714
0.805
ENST00000374713
0.805
ENST00000395197
0.805
ENST00000374712
0.805
ENST00000361917
0.805
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002941 (SAS)
Exomes Max Group AF
0.00003043 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33168957G>A , CM000668.2:g.33168957G>A | GRCh38 |
| NC_000006.11:g.33136734G>A , CM000668.1:g.33136734G>A | GRCh37 |
| NC_000006.10:g.33244712G>A | NCBI36 |
| NG_011589.1:g.28512C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3850C>T MANE Select | ENSP00000339915.2:p.Arg1284Trp | |
| ENST00000341947.6:c.3850C>T | ENSP00000339915.2:p.Arg1284Trp | |
| ENST00000361917.5:c.3529C>T | ENSP00000355123.1:p.Arg1177Trp | |
| ENST00000374708.8:c.3592C>T | ENSP00000363840.4:p.Arg1198Trp | |
| ENST00000477772.1:n.273-3141C>T | ||
| NM_080679.2:c.3529C>T | NP_542410.2:p.Arg1177Trp | |
| NM_080680.2:c.3850C>T | NP_542411.2:p.Arg1284Trp | |
| NM_080681.2:c.3592C>T | NP_542412.2:p.Arg1198Trp | |
| XM_011514298.1:c.3004C>T | XP_011512600.1:p.Arg1002Trp | |
| XM_011514299.1:c.3136C>T | XP_011512601.1:p.Arg1046Trp | |
| XM_011514300.1:c.2956C>T | XP_011512602.1:p.Arg986Trp | |
| XM_011514301.1:c.2893C>T | XP_011512603.1:p.Arg965Trp | |
| XM_011514302.1:c.2737C>T | XP_011512604.1:p.Arg913Trp | |
| XM_011514299.2:c.3136C>T | XP_011512601.1:p.Arg1046Trp | |
| XM_011514300.2:c.2956C>T | XP_011512602.1:p.Arg986Trp | |
| XM_011514302.2:c.2737C>T | XP_011512604.1:p.Arg913Trp | |
| XM_017010250.1:c.3850C>T | XP_016865739.1:p.Arg1284Trp | |
| XM_017010251.2:c.2668C>T | XP_016865740.1:p.Arg890Trp | |
| NM_080680.3:c.3850C>T MANE Select | NP_542411.2:p.Arg1284Trp | |
| NM_080681.3:c.3592C>T | NP_542412.2:p.Arg1198Trp | |
| NM_080679.3:c.3529C>T | NP_542410.2:p.Arg1177Trp |