Revel Score:
ENST00000342505 (MANE Select)
0.699
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64846735G>T , CM000663.2:g.64846735G>T | GRCh38 |
| NC_000001.10:g.65312418G>T , CM000663.1:g.65312418G>T | GRCh37 |
| NC_000001.9:g.65085006G>T | NCBI36 |
| NG_023402.1:g.124770C>A | |
| NG_023402.2:g.226012C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465376.7:n.241C>A | ||
| ENST00000671746.2:c.*1809C>A | ENSP00000500065.1:n.*1809C>A | |
| ENST00000671929.2:c.1901C>A | ENSP00000500485.1:p.Ala634Asp | |
| ENST00000671954.2:c.1901C>A | ENSP00000500841.1:p.Ala634Asp | |
| ENST00000672179.2:c.1901C>A | ENSP00000500296.1:p.Ala634Asp | |
| ENST00000672247.2:c.1901C>A | ENSP00000499884.1:p.Ala634Asp | |
| ENST00000672434.2:c.1901C>A | ENSP00000499900.1:p.Ala634Asp | |
| ENST00000672574.2:c.1901C>A | ENSP00000500714.2:p.Ala634Asp | |
| ENST00000672751.2:c.1901C>A | ENSP00000500745.2:p.Ala634Asp | |
| ENST00000673246.2:c.1772C>A | ENSP00000499942.2:p.Ala591Asp | |
| ENST00000673314.2:n.2192C>A | ||
| ENST00000673502.2:n.2352C>A | ||
| ENST00000699259.1:c.1898C>A | ENSP00000514240.1:p.Ala633Asp | |
| ENST00000699260.1:c.1898C>A | ENSP00000514241.1:p.Ala633Asp | |
| ENST00000699261.1:c.1898C>A | ENSP00000514242.1:p.Ala633Asp | |
| ENST00000699262.1:c.1901C>A | ENSP00000514243.1:p.Ala634Asp | |
| ENST00000699310.1:c.1895C>A | ENSP00000514289.1:p.Ala632Asp | |
| ENST00000699311.1:c.*561C>A | ENSP00000514290.1:n.*561C>A | |
| ENST00000699312.1:c.1901C>A | ENSP00000514291.1:p.Ala634Asp | |
| ENST00000699313.1:c.*561C>A | ENSP00000514292.1:n.*561C>A | |
| ENST00000342505.5:c.1901C>A MANE Select | ENSP00000343204.4:p.Ala634Asp | |
| ENST00000465376.6:n.202C>A | ||
| ENST00000671746.1:c.*1809C>A | ENSP00000500065.1:n.*1809C>A | |
| ENST00000671929.1:c.1901C>A | ENSP00000500485.1:p.Ala634Asp | |
| ENST00000671954.1:c.1901C>A | ENSP00000500841.1:p.Ala634Asp | |
| ENST00000672179.1:c.1901C>A | ENSP00000500296.1:p.Ala634Asp | |
| ENST00000672247.1:c.1901C>A | ENSP00000499884.1:p.Ala634Asp | |
| ENST00000672434.1:c.1901C>A | ENSP00000499900.1:p.Ala634Asp | |
| ENST00000673046.1:c.1901C>A | ENSP00000500878.1:p.Ala634Asp | |
| ENST00000673220.1:c.*4461C>A | ENSP00000500422.1:n.*4461C>A | |
| ENST00000673246.1:c.1416C>A | ||
| ENST00000673254.1:c.1769C>A | ENSP00000500476.1:p.Ala590Asp | |
| ENST00000673314.1:n.1989C>A | ||
| ENST00000673502.1:c.1901C>A | ENSP00000500011.1:p.Ala634Asp | |
| ENST00000342505.4:c.1901C>A | ENSP00000343204.4:p.Ala634Asp | |
| ENST00000465376.5:n.184C>A | ||
| ENST00000471473.1:n.175C>A | ||
| NM_002227.2:c.1901C>A | NP_002218.2:p.Ala634Asp | |
| XM_005270841.1:c.1901C>A | XP_005270898.1:p.Ala634Asp | |
| XM_006710624.1:c.1901C>A | XP_006710687.1:p.Ala634Asp | |
| XM_011541395.1:c.1898C>A | XP_011539697.1:p.Ala633Asp | |
| NM_001320923.1:c.1901C>A | NP_001307852.1:p.Ala634Asp | |
| NM_001321852.1:c.1901C>A | NP_001308781.1:p.Ala634Asp | |
| NM_001321853.1:c.1901C>A | NP_001308782.1:p.Ala634Asp | |
| NM_001321854.1:c.1901C>A | NP_001308783.1:p.Ala634Asp | |
| NM_001321855.1:c.1901C>A | NP_001308784.1:p.Ala634Asp | |
| NM_001321856.1:c.1901C>A | NP_001308785.1:p.Ala634Asp | |
| NM_001321857.1:c.1898C>A | NP_001308786.1:p.Ala633Asp | |
| NM_002227.3:c.1901C>A | NP_002218.2:p.Ala634Asp | |
| NM_002227.4:c.1901C>A MANE Select | NP_002218.2:p.Ala634Asp | |
| NM_001321852.2:c.1901C>A | NP_001308781.1:p.Ala634Asp | |
| NM_001321853.2:c.1901C>A | NP_001308782.1:p.Ala634Asp | |
| NM_001321854.2:c.1901C>A | NP_001308783.1:p.Ala634Asp | |
| NM_001321855.2:c.1901C>A | NP_001308784.1:p.Ala634Asp | |
| NM_001321857.2:c.1898C>A | NP_001308786.1:p.Ala633Asp | |
| NM_001320923.2:c.1901C>A | NP_001307852.1:p.Ala634Asp | |
| NM_001321856.2:c.1901C>A | NP_001308785.1:p.Ala634Asp |