ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001645 (NFE)
Exomes Max Group AF
0.00001746 (NFE)
Revel Score:
ENST00000261978 (MANE Select)
0.545
ENST00000556690
0.545
ENST00000556206
0.086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74508685C>T , CM000676.2:g.74508685C>T | GRCh38 |
| NC_000014.8:g.74975388C>T , CM000676.1:g.74975388C>T | GRCh37 |
| NC_000014.7:g.74045141C>T | NCBI36 |
| NG_021486.1:g.108647G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261978.9:c.3571G>A MANE Select | ENSP00000261978.4:p.Glu1191Lys | |
| ENST00000261978.8:c.3571G>A | ENSP00000261978.4:p.Glu1191Lys | |
| ENST00000553939.5:c.3571G>A | ENSP00000452110.1:p.Glu1191Lys | |
| ENST00000556206.1:c.368G>A | ||
| ENST00000556690.5:c.3571G>A | ENSP00000451477.1:p.Glu1191Lys | |
| NM_000428.2:c.3571G>A | NP_000419.1:p.Glu1191Lys | |
| XM_011536765.1:c.3190G>A | XP_011535067.1:p.Glu1064Lys | |
| XM_011536766.1:c.3112G>A | XP_011535068.1:p.Glu1038Lys | |
| XM_011536767.1:c.3088G>A | XP_011535069.1:p.Glu1030Lys | |
| XM_011536765.2:c.3190G>A | XP_011535067.1:p.Glu1064Lys | |
| NM_000428.3:c.3571G>A MANE Select | NP_000419.1:p.Glu1191Lys |