ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000037 (SAS)
Exomes Max Group AF
0.00000391 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753971C>T , CM000673.2:g.64753971C>T | GRCh38 |
| NC_000011.9:g.64521443C>T , CM000673.1:g.64521443C>T | GRCh37 |
| NC_000011.8:g.64278019C>T | NCBI36 |
| NG_013018.1:g.11745G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1147G>A MANE Select | ENSP00000164139.3:p.Glu383Lys | |
| ENST00000164139.3:c.1147G>A | ENSP00000164139.3:p.Glu383Lys | |
| ENST00000377432.7:c.883G>A | ENSP00000366650.3:p.Glu295Lys | |
| ENST00000460413.1:n.224G>A | ||
| NM_001164716.1:c.883G>A | NP_001158188.1:p.Glu295Lys | |
| NM_005609.2:c.1147G>A | NP_005600.1:p.Glu383Lys | |
| NM_005609.3:c.1147G>A | NP_005600.1:p.Glu383Lys | |
| NM_005609.4:c.1147G>A MANE Select | NP_005600.1:p.Glu383Lys |