Revel Score:
ENST00000396268 (MANE Select)
0.019
ENST00000376266
0.019
ENST00000396263
0.019
ENST00000440185
0.019
ENST00000451521
0.019
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31150734T>A , CM000668.2:g.31150734T>A | GRCh38 |
| NC_000006.11:g.31118511T>A , CM000668.1:g.31118511T>A | GRCh37 |
| NC_000006.10:g.31226490T>A | NCBI36 |
| NG_054878.1:g.12505A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396268.8:c.1092A>T MANE Select | ENSP00000379566.3:p.Glu364Asp | |
| ENST00000652427.1:c.825A>T | ENSP00000498342.1:p.Glu275Asp | |
| ENST00000652535.1:c.825A>T | ENSP00000498479.1:p.Glu275Asp | |
| ENST00000376266.9:c.825A>T | ENSP00000365442.5:p.Glu275Asp | |
| ENST00000396263.6:c.825A>T | ENSP00000379561.2:p.Glu275Asp | |
| ENST00000396268.7:c.1092A>T | ENSP00000379566.3:p.Glu364Asp | |
| ENST00000451521.6:c.984A>T | ENSP00000401039.2:p.Glu328Asp | |
| ENST00000480060.5:n.93-1066A>T | ||
| ENST00000509552.5:n.966A>T | ||
| ENST00000512418.5:c.*278A>T | ENSP00000426883.1:n.*278A>T | |
| NM_001105563.1:c.984A>T | NP_001099033.1:p.Glu328Asp | |
| NM_001105564.1:c.1092A>T | NP_001099034.1:p.Glu364Asp | |
| NM_019052.3:c.825A>T | NP_061925.2:p.Glu275Asp | |
| XM_011514702.1:c.1011A>T | XP_011513004.1:p.Glu337Asp | |
| XM_011514703.1:c.825A>T | XP_011513005.1:p.Glu275Asp | |
| XM_011514704.1:c.717A>T | XP_011513006.1:p.Glu239Asp | |
| XM_011514705.1:c.717A>T | XP_011513007.1:p.Glu239Asp | |
| XM_011514706.1:c.825A>T | XP_011513008.1:p.Glu275Asp | |
| XM_011514702.2:c.1011A>T | XP_011513004.1:p.Glu337Asp | |
| XM_011514704.3:c.717A>T | XP_011513006.1:p.Glu239Asp | |
| XM_017010961.1:c.1119A>T | XP_016866450.1:p.Glu373Asp | |
| XM_017010962.2:c.825A>T | XP_016866451.1:p.Glu275Asp | |
| XM_017010963.1:c.825A>T | XP_016866452.1:p.Glu275Asp | |
| XM_017010964.1:c.825A>T | XP_016866453.1:p.Glu275Asp | |
| XM_017010965.1:c.825A>T | XP_016866454.1:p.Glu275Asp | |
| XM_017010966.1:c.825A>T | XP_016866455.1:p.Glu275Asp | |
| XM_017010967.1:c.825A>T | XP_016866456.1:p.Glu275Asp | |
| XM_017010968.1:c.825A>T | XP_016866457.1:p.Glu275Asp | |
| XM_017010969.1:c.717A>T | XP_016866458.1:p.Glu239Asp | |
| XM_017010970.1:c.-4A>T | XP_016866459.1:n.-4A>T | |
| XM_024446473.1:c.903A>T | XP_024302241.1:p.Glu301Asp | |
| NM_019052.4:c.825A>T | NP_061925.2:p.Glu275Asp | |
| NM_001105563.2:c.984A>T | NP_001099033.1:p.Glu328Asp | |
| NM_001105563.3:c.984A>T | NP_001099033.1:p.Glu328Asp | |
| NM_001105564.2:c.1092A>T MANE Select | NP_001099034.1:p.Glu364Asp | |
| NM_001394641.1:c.1119A>T | NP_001381570.1:p.Glu373Asp | |
| NM_001394642.1:c.825A>T | NP_001381571.1:p.Glu275Asp | |
| NM_001394643.1:c.825A>T | NP_001381572.1:p.Glu275Asp | |
| NM_001394644.1:c.825A>T | NP_001381573.1:p.Glu275Asp | |
| NM_001394646.1:c.825A>T | NP_001381575.1:p.Glu275Asp | |
| NM_001394647.1:c.747A>T | NP_001381576.1:p.Glu249Asp | |
| NM_001394648.1:c.717A>T | NP_001381577.1:p.Glu239Asp | |
| NM_001394649.1:c.468A>T | NP_001381578.1:p.Glu156Asp |