Revel Score:
ENST00000344627
0.941
ENST00000262018 (MANE Select)
0.941
ENST00000543315
0.941
ENST00000451235
0.941
ENST00000511303
0.941
ENST00000504073
0.789
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50168568G>A , CM000679.2:g.50168568G>A | GRCh38 |
| NC_000017.10:g.48245929G>A , CM000679.1:g.48245929G>A | GRCh37 |
| NC_000017.9:g.45600928G>A | NCBI36 |
| NG_008889.1:g.7564G>A , LRG_203:g.7564G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.580G>A | ENSP00000422030.2:p.Glu194Lys | |
| ENST00000511303.6:n.305G>A | ||
| ENST00000512526.2:c.571G>A | ENSP00000426606.2:n.571G>A | |
| ENST00000682109.1:c.460G>A | ENSP00000508041.1:p.Glu154Lys | |
| ENST00000683226.1:n.290G>A | ||
| ENST00000683294.1:c.580G>A | ENSP00000508134.1:p.Glu194Lys | |
| ENST00000262018.8:c.580G>A MANE Select | ENSP00000262018.3:p.Glu194Lys | |
| ENST00000262018.7:c.580G>A | ENSP00000262018.3:p.Glu194Lys | |
| ENST00000344627.10:c.580G>A | ENSP00000345522.6:p.Glu194Lys | |
| ENST00000502555.5:c.*239G>A | ENSP00000422817.1:n.*239G>A | |
| ENST00000504073.1:c.47G>A | ||
| ENST00000511303.5:c.301G>A | ENSP00000426104.1:p.Glu101Lys | |
| ENST00000512526.1:c.415G>A | ||
| ENST00000513821.5:c.580G>A | ENSP00000426571.1:p.Glu194Lys | |
| ENST00000513942.5:n.371G>A | ||
| ENST00000514934.1:c.*286G>A | ENSP00000423168.1:n.*286G>A | |
| NM_000023.2:c.580G>A , LRG_203t1:c.580G>A | NP_000014.1:p.Glu194Lys | |
| NM_001135697.1:c.580G>A | NP_001129169.1:p.Glu194Lys | |
| XM_011525120.1:c.580G>A | XP_011523422.1:p.Glu194Lys | |
| XM_011525121.1:c.580G>A | XP_011523423.1:p.Glu194Lys | |
| XM_011525122.1:c.580G>A | XP_011523424.1:p.Glu194Lys | |
| XM_011525123.1:c.580G>A | XP_011523425.1:p.Glu194Lys | |
| XM_011525124.1:c.274G>A | XP_011523426.1:p.Glu92Lys | |
| XR_934517.1:n.646G>A | ||
| NM_000023.3:c.580G>A | NP_000014.1:p.Glu194Lys | |
| NM_001135697.2:c.580G>A | NP_001129169.1:p.Glu194Lys | |
| NR_135553.1:n.636G>A | ||
| XM_011525120.2:c.742G>A | XP_011523422.2:p.Glu248Lys | |
| XM_011525121.2:c.742G>A | XP_011523423.2:p.Glu248Lys | |
| XM_011525122.2:c.742G>A | XP_011523424.2:p.Glu248Lys | |
| XM_011525123.2:c.742G>A | XP_011523425.2:p.Glu248Lys | |
| XM_011525124.2:c.274G>A | XP_011523426.1:p.Glu92Lys | |
| XM_024450873.1:c.274G>A | XP_024306641.1:p.Glu92Lys | |
| XR_002958056.1:n.1098G>A | ||
| NM_000023.4:c.580G>A MANE Select | NP_000014.1:p.Glu194Lys | |
| NM_001135697.3:c.580G>A | NP_001129169.1:p.Glu194Lys | |
| NR_135553.2:n.616G>A |