Revel Score:
ENST00000389266 (MANE Select)
0.962
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30628598G>A , CM000669.2:g.30628598G>A | GRCh38 |
| NC_000007.13:g.30668214G>A , CM000669.1:g.30668214G>A | GRCh37 |
| NC_000007.12:g.30634739G>A | NCBI36 |
| NG_007942.1:g.39034G>A , LRG_243:g.39034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1738G>A MANE Select | ENSP00000373918.3:p.Gly580Ser | |
| ENST00000444666.6:c.*159G>A | ENSP00000415447.2:n.*159G>A | |
| ENST00000465748.2:n.1219G>A | ||
| ENST00000470392.2:n.1828G>A | ||
| ENST00000485784.2:n.1817G>A | ||
| ENST00000496643.2:n.55G>A | ||
| ENST00000674616.1:c.*1452G>A | ENSP00000502408.1:n.*1452G>A | |
| ENST00000674643.1:c.*838G>A | ENSP00000501636.1:n.*838G>A | |
| ENST00000674737.1:c.*1076G>A | ENSP00000502464.1:n.*1076G>A | |
| ENST00000674807.1:c.*11G>A | ENSP00000502814.1:n.*11G>A | |
| ENST00000674815.1:c.1369G>A | ENSP00000502799.1:p.Gly457Ser | |
| ENST00000674851.1:c.1369G>A | ENSP00000502451.1:p.Gly457Ser | |
| ENST00000674969.1:n.3611G>A | ||
| ENST00000675051.1:c.1537G>A | ENSP00000502296.1:p.Gly513Ser | |
| ENST00000675529.1:c.*1608G>A | ENSP00000501655.1:n.*1608G>A | |
| ENST00000675587.1:n.2570G>A | ||
| ENST00000675651.1:c.1738G>A | ENSP00000502513.1:p.Gly580Ser | |
| ENST00000675693.1:c.1570G>A | ENSP00000502174.1:p.Gly524Ser | |
| ENST00000675810.1:c.1636G>A | ENSP00000502743.1:p.Gly546Ser | |
| ENST00000675859.1:c.*11G>A | ENSP00000502033.1:n.*11G>A | |
| ENST00000675863.1:n.1746G>A | ||
| ENST00000675886.1:n.7778G>A | ||
| ENST00000676088.1:c.*1680G>A | ENSP00000501884.1:n.*1680G>A | |
| ENST00000676140.1:c.*683G>A | ENSP00000502571.1:n.*683G>A | |
| ENST00000676164.1:c.*1189G>A | ENSP00000501986.1:n.*1189G>A | |
| ENST00000676210.1:c.*1027G>A | ENSP00000502373.1:n.*1027G>A | |
| ENST00000676259.1:c.*1170G>A | ENSP00000501980.1:n.*1170G>A | |
| ENST00000676403.1:c.1738G>A | ENSP00000502681.1:p.Gly580Ser | |
| ENST00000389266.7:c.1738G>A | ENSP00000373918.3:p.Gly580Ser | |
| ENST00000444666.5:c.393G>A | ENSP00000415447.1:n.393G>A | |
| ENST00000465748.1:n.109G>A | ||
| ENST00000470392.1:n.460G>A | ||
| NM_001316772.1:c.1576G>A | NP_001303701.1:p.Gly526Ser | |
| NM_002047.2:c.1738G>A , LRG_243t1:c.1738G>A | NP_002038.2:p.Gly580Ser | |
| NM_002047.3:c.1738G>A | NP_002038.2:p.Gly580Ser | |
| XM_006715686.1:c.1369G>A | XP_006715749.1:p.Gly457Ser | |
| XM_006715686.2:c.1369G>A | XP_006715749.1:p.Gly457Ser | |
| NM_002047.4:c.1738G>A MANE Select | NP_002038.2:p.Gly580Ser |