COSMIC:
COSM4134845 (not active)
Revel Score:
ENST00000344577
0.295
ENST00000536861
0.295
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53645728 (AFR)
Genomes Max Group AF
0.53674423 (AFR)
Exomes Max Group AF
0.53170754 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.14144627C>T , CM000683.2:g.14144627C>T | GRCh38 |
| NC_000021.8:g.15516948C>T , CM000683.1:g.15516948C>T | GRCh37 |
| NC_000021.7:g.14438819C>T | NCBI36 |
| NG_021434.2:g.67307G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400211.3:c.1006+18792G>A | ENSP00000383072.3:n.1006+18792G>A | |
| ENST00000536861.6:c.1273G>A | ENSP00000440381.3:p.Glu425Lys | |
| ENST00000614229.5:c.1201G>A | ENSP00000482652.2:p.Glu401Lys | |
| ENST00000679868.1:c.796G>A | ENSP00000506458.1:p.Glu266Lys | |
| ENST00000680487.1:c.*295G>A | ENSP00000506194.1:n.*295G>A | |
| ENST00000680801.1:c.1186G>A | ENSP00000505904.1:p.Glu396Lys | |
| ENST00000681601.1:c.1291G>A MANE Select | ENSP00000505323.1:p.Glu431Lys | |
| ENST00000344577.6:c.1354G>A | ENSP00000343331.2:p.Glu452Lys | |
| ENST00000536861.5:c.1264G>A | ENSP00000440381.2:p.Glu422Lys | |
| ENST00000614229.4:c.1174G>A | ENSP00000482652.1:p.Glu392Lys | |
| NM_001302998.1:c.1291G>A | NP_001289927.1:p.Glu431Lys | |
| NM_001302999.1:c.1201G>A | NP_001289928.1:p.Glu401Lys | |
| NM_001303000.1:c.1273G>A | NP_001289929.1:p.Glu425Lys | |
| NM_001303001.1:c.1006+18792G>A | NP_001289930.1:n.1006+18792G>A | |
| NM_198996.3:c.1354G>A | NP_945347.2:p.Glu452Lys | |
| XM_006723966.1:c.1075+18810G>A | XP_006724029.1:n.1075+18810G>A | |
| NM_001302998.2:c.1291G>A MANE Select | NP_001289927.1:p.Glu431Lys | |
| NM_001302999.2:c.1201G>A | NP_001289928.1:p.Glu401Lys | |
| NM_001303000.2:c.1273G>A | NP_001289929.1:p.Glu425Lys | |
| NM_001303001.2:c.1006+18792G>A | NP_001289930.1:n.1006+18792G>A | |
| NM_001379565.1:c.1186G>A | NP_001366494.1:p.Glu396Lys | |
| NM_001379566.1:c.796G>A | NP_001366495.1:p.Glu266Lys | |
| NM_198996.4:c.1156G>A | NP_945347.3:p.Glu386Lys |