Revel Score:
ENST00000388922 (MANE Select)
0.892
ENST00000267008
0.892
ENST00000550683
0.892
ENST00000548659
0.892
ENST00000419526
0.892
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00003587 (SAS)
Exomes Max Group AF
0.00003765 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51915293G>A , CM000674.2:g.51915293G>A | GRCh38 |
| NC_000012.11:g.52309077G>A , CM000674.1:g.52309077G>A | GRCh37 |
| NC_000012.10:g.50595344G>A | NCBI36 |
| NG_009549.1:g.12876G>A , LRG_543:g.12876G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.571G>A | ENSP00000446724.2:p.Glu191Lys | |
| ENST00000551576.6:c.841G>A | ENSP00000455848.2:p.Glu281Lys | |
| ENST00000552678.2:c.841G>A | ENSP00000457394.2:p.Glu281Lys | |
| ENST00000388922.9:c.841G>A MANE Select | ENSP00000373574.4:p.Glu281Lys | |
| ENST00000388922.8:c.841G>A | ENSP00000373574.4:p.Glu281Lys | |
| ENST00000419526.6:c.319G>A | ENSP00000392492.2:p.Glu107Lys | |
| ENST00000550683.5:c.883G>A | ENSP00000447884.1:p.Glu295Lys | |
| NM_000020.2:c.841G>A , LRG_543t1:c.841G>A | NP_000011.2:p.Glu281Lys | |
| NM_001077401.1:c.841G>A | NP_001070869.1:p.Glu281Lys | |
| XM_005269235.2:c.841G>A | XP_005269292.1:p.Glu281Lys | |
| XM_011539008.1:c.571G>A | XP_011537310.1:p.Glu191Lys | |
| XM_024449279.1:c.52G>A | XP_024305047.1:p.Glu18Lys | |
| NM_000020.3:c.841G>A MANE Select | NP_000011.2:p.Glu281Lys | |
| NM_001077401.2:c.841G>A | NP_001070869.1:p.Glu281Lys |