Revel Score:
ENST00000374708
0.647
ENST00000341947 (MANE Select)
0.647
ENST00000357486
0.647
ENST00000374714
0.647
ENST00000374713
0.647
ENST00000395197
0.647
ENST00000374712
0.647
ENST00000361917
0.647
ENST00000457788
0.647
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33179784C>A , CM000668.2:g.33179784C>A | GRCh38 |
| NC_000006.11:g.33147561C>A , CM000668.1:g.33147561C>A | GRCh37 |
| NC_000006.10:g.33255539C>A | NCBI36 |
| NG_011589.1:g.17685G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.8G>T | ||
| ENST00000341947.7:c.1381G>T MANE Select | ENSP00000339915.2:p.Gly461Cys | |
| ENST00000341947.6:c.1381G>T | ENSP00000339915.2:p.Gly461Cys | |
| ENST00000361917.5:c.1060G>T | ENSP00000355123.1:p.Gly354Cys | |
| ENST00000374708.8:c.1123G>T | ENSP00000363840.4:p.Gly375Cys | |
| ENST00000457788.5:c.1381G>T | ENSP00000405520.1:p.Gly461Cys | |
| NM_080679.2:c.1060G>T | NP_542410.2:p.Gly354Cys | |
| NM_080680.2:c.1381G>T | NP_542411.2:p.Gly461Cys | |
| NM_080681.2:c.1123G>T | NP_542412.2:p.Gly375Cys | |
| XM_011514298.1:c.535G>T | XP_011512600.1:p.Gly179Cys | |
| XM_011514299.1:c.667G>T | XP_011512601.1:p.Gly223Cys | |
| XM_011514300.1:c.487G>T | XP_011512602.1:p.Gly163Cys | |
| XM_011514301.1:c.424G>T | XP_011512603.1:p.Gly142Cys | |
| XM_011514302.1:c.268G>T | XP_011512604.1:p.Gly90Cys | |
| XM_011514299.2:c.667G>T | XP_011512601.1:p.Gly223Cys | |
| XM_011514300.2:c.487G>T | XP_011512602.1:p.Gly163Cys | |
| XM_011514302.2:c.268G>T | XP_011512604.1:p.Gly90Cys | |
| XM_017010250.1:c.1381G>T | XP_016865739.1:p.Gly461Cys | |
| XM_017010251.2:c.199G>T | XP_016865740.1:p.Gly67Cys | |
| NM_080680.3:c.1381G>T MANE Select | NP_542411.2:p.Gly461Cys | |
| NM_080681.3:c.1123G>T | NP_542412.2:p.Gly375Cys | |
| NM_080679.3:c.1060G>T | NP_542410.2:p.Gly354Cys |