Revel Score:
ENST00000391911
0.490
ENST00000356082 (MANE Select)
0.490
ENST00000367030
0.490
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000096 (NFE)
Exomes Max Group AF
0.00000938 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209633070C>T , CM000663.2:g.209633070C>T | GRCh38 |
| NC_000001.10:g.209806415C>T , CM000663.1:g.209806415C>T | GRCh37 |
| NC_000001.9:g.207873038C>T | NCBI36 |
| NG_007116.1:g.24406G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.628G>A MANE Select | ENSP00000348384.3:p.Glu210Lys | |
| ENST00000356082.8:c.628G>A | ENSP00000348384.3:p.Glu210Lys | |
| ENST00000367030.7:c.628G>A | ENSP00000355997.3:p.Glu210Lys | |
| ENST00000391911.5:c.628G>A | ENSP00000375778.1:p.Glu210Lys | |
| NM_000228.2:c.628G>A | NP_000219.2:p.Glu210Lys | |
| NM_001017402.1:c.628G>A | NP_001017402.1:p.Glu210Lys | |
| NM_001127641.1:c.628G>A | NP_001121113.1:p.Glu210Lys | |
| XM_005273124.3:c.628G>A | XP_005273181.1:p.Glu210Lys | |
| XM_005273124.4:c.628G>A | XP_005273181.1:p.Glu210Lys | |
| XM_017001272.2:c.436G>A | XP_016856761.1:p.Glu146Lys | |
| NM_000228.3:c.628G>A MANE Select | NP_000219.2:p.Glu210Lys | |
| NM_001017402.2:c.628G>A | NP_001017402.1:p.Glu210Lys |