Revel Score:
ENST00000285021 (MANE Select)
0.331
ENST00000449060
0.331
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14152389C>A , CM000665.2:g.14152389C>A | GRCh38 |
| NC_000003.11:g.14193889C>A , CM000665.1:g.14193889C>A | GRCh37 |
| NC_000003.10:g.14168890C>A | NCBI36 |
| NG_011763.1:g.31284G>T , LRG_472:g.31284G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2061G>T MANE Select | ENSP00000285021.8:p.Arg687Ser | |
| ENST00000285021.11:c.2061G>T | ENSP00000285021.7:p.Arg687Ser | |
| ENST00000476581.6:c.*1514G>T | ENSP00000424548.1:n.*1514G>T | |
| NM_004628.4:c.2061G>T , LRG_472t1:c.2061G>T | NP_004619.3:p.Arg687Ser | |
| NR_027299.1:n.2041G>T | ||
| XM_011534092.1:c.2061G>T | XP_011532394.1:p.Arg687Ser | |
| NM_001354726.1:c.1482G>T | NP_001341655.1:p.Arg494Ser | |
| NM_001354727.1:c.2055G>T | NP_001341656.1:p.Arg685Ser | |
| NM_001354729.1:c.2043G>T | NP_001341658.1:p.Arg681Ser | |
| NM_001354730.1:c.1815G>T | NP_001341659.1:p.Arg605Ser | |
| NR_148950.1:n.2004G>T | ||
| NR_148951.1:n.1880G>T | ||
| XR_001740256.2:n.2094G>T | ||
| XR_002959580.1:n.2094G>T | ||
| XR_002959581.1:n.3711G>T | ||
| NM_001354727.2:c.2055G>T | NP_001341656.1:p.Arg685Ser | |
| NM_004628.5:c.2061G>T MANE Select | NP_004619.3:p.Arg687Ser | |
| NR_148950.2:n.1933G>T | ||
| NR_148951.2:n.1809G>T | ||
| NM_001354726.2:c.1482G>T | NP_001341655.1:p.Arg494Ser | |
| NM_001354729.2:c.2043G>T | NP_001341658.1:p.Arg681Ser | |
| NM_001354730.2:c.1815G>T | NP_001341659.1:p.Arg605Ser |