Revel Score:
ENST00000401500 (MANE Select)
0.238
ENST00000270301
0.238
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36084678G>C , CM000681.2:g.36084678G>C | GRCh38 |
| NC_000019.9:g.36575580G>C , CM000681.1:g.36575580G>C | GRCh37 |
| NC_000019.8:g.41267420G>C | NCBI36 |
| NG_028101.1:g.34798G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.1576G>C | ENSP00000270301.6:p.Glu526Gln | |
| ENST00000401500.7:c.1576G>C MANE Select | ENSP00000384792.1:p.Glu526Gln | |
| ENST00000587391.6:c.*266G>C | ENSP00000465525.1:n.*266G>C | |
| ENST00000644764.2:c.*315G>C | ENSP00000494253.2:n.*315G>C | |
| ENST00000679682.1:c.1561G>C | ENSP00000506226.1:p.Glu521Gln | |
| ENST00000679714.1:c.1570G>C | ENSP00000506627.1:p.Glu524Gln | |
| ENST00000679757.1:c.1225G>C | ENSP00000505158.1:p.Glu409Gln | |
| ENST00000679858.1:c.*373G>C | ENSP00000505655.1:n.*373G>C | |
| ENST00000680359.1:c.1576G>C | ENSP00000506079.1:p.Glu526Gln | |
| ENST00000680377.1:c.26G>C | ||
| ENST00000680403.1:c.1576G>C | ENSP00000505677.1:p.Glu526Gln | |
| ENST00000680489.1:n.1899G>C | ||
| ENST00000680564.1:c.1576G>C | ENSP00000505582.1:p.Glu526Gln | |
| ENST00000680590.1:c.1523G>C | ENSP00000505350.1:p.Arg508Pro | |
| ENST00000680806.1:c.*405G>C | ENSP00000506418.1:n.*405G>C | |
| ENST00000680858.1:c.26G>C | ||
| ENST00000681302.1:c.26G>C | ||
| ENST00000681625.1:c.1561G>C | ENSP00000505555.1:p.Glu521Gln | |
| ENST00000270301.11:c.1576G>C | ENSP00000270301.6:p.Glu526Gln | |
| ENST00000401500.6:c.1576G>C | ENSP00000384792.1:p.Glu526Gln | |
| ENST00000587391.5:c.*266G>C | ENSP00000465525.1:n.*266G>C | |
| NM_001083961.1:c.1576G>C | NP_001077430.1:p.Glu526Gln | |
| NM_173636.4:c.1576G>C | NP_775907.4:p.Glu526Gln | |
| XM_005258809.2:c.1576G>C | XP_005258866.1:p.Glu526Gln | |
| XM_011526837.1:c.1561G>C | XP_011525139.1:p.Glu521Gln | |
| XM_011526838.1:c.1576G>C | XP_011525140.1:p.Glu526Gln | |
| XM_011526839.1:c.1225G>C | XP_011525141.1:p.Glu409Gln | |
| XM_011526840.1:c.568G>C | XP_011525142.1:p.Glu190Gln | |
| XM_011526841.1:c.154G>C | XP_011525143.1:p.Glu52Gln | |
| XM_011526842.1:c.7G>C | XP_011525144.1:p.Glu3Gln | |
| XM_011526840.2:c.568G>C | XP_011525142.1:p.Glu190Gln | |
| XM_011526841.2:c.154G>C | XP_011525143.1:p.Glu52Gln | |
| XM_017026665.1:c.1576G>C | XP_016882154.1:p.Glu526Gln | |
| XR_001753671.1:n.1667G>C | ||
| XR_001753672.1:n.1667G>C | ||
| NM_001083961.2:c.1576G>C MANE Select | NP_001077430.1:p.Glu526Gln | |
| NM_173636.5:c.1576G>C | NP_775907.4:p.Glu526Gln |