Revel Score:
ENST00000398860
0.693
ENST00000398855
0.693
ENST00000224721 (MANE Select)
0.693
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71785667G>C , CM000672.2:g.71785667G>C | GRCh38 |
| NC_000010.10:g.73545424G>C , CM000672.1:g.73545424G>C | GRCh37 |
| NC_000010.9:g.73215430G>C | NCBI36 |
| NG_008835.1:g.393721G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5749G>C MANE Select | ENSP00000224721.9:p.Glu1917Gln | |
| ENST00000224721.10:c.5764G>C | ENSP00000224721.8:p.Glu1922Gln | |
| ENST00000622827.4:c.5749G>C | ENSP00000483211.1:p.Glu1917Gln | |
| NM_022124.5:c.5749G>C | NP_071407.4:p.Glu1917Gln | |
| XM_006717940.2:c.5944G>C | XP_006718003.1:p.Glu1982Gln | |
| XM_006717942.2:c.5878G>C | XP_006718005.1:p.Glu1960Gln | |
| XM_011540039.1:c.5941G>C | XP_011538341.1:p.Glu1981Gln | |
| XM_011540040.1:c.5938G>C | XP_011538342.1:p.Glu1980Gln | |
| XM_011540041.1:c.5884G>C | XP_011538343.1:p.Glu1962Gln | |
| XM_011540042.1:c.5944G>C | XP_011538344.1:p.Glu1982Gln | |
| XM_011540043.1:c.5944G>C | XP_011538345.1:p.Glu1982Gln | |
| XM_011540044.1:c.5809G>C | XP_011538346.1:p.Glu1937Gln | |
| XM_011540045.1:c.5944G>C | XP_011538347.1:p.Glu1982Gln | |
| XM_011540046.1:c.5404G>C | XP_011538348.1:p.Glu1802Gln | |
| XM_011540047.1:c.4762G>C | XP_011538349.1:p.Glu1588Gln | |
| XM_011540048.1:c.5944G>C | XP_011538350.1:p.Glu1982Gln | |
| XM_011540049.1:c.5944G>C | XP_011538351.1:p.Glu1982Gln | |
| XM_011540050.1:c.5944G>C | XP_011538352.1:p.Glu1982Gln | |
| XM_011540051.1:c.5944G>C | XP_011538353.1:p.Glu1982Gln | |
| XM_011540052.1:c.2272G>C | XP_011538354.1:p.Glu758Gln | |
| XM_011540053.1:c.5944G>C | XP_011538355.1:p.Glu1982Gln | |
| XR_945796.1:n.6187G>C | ||
| NM_022124.6:c.5749G>C MANE Select | NP_071407.4:p.Glu1917Gln |