Revel Score:
ENST00000398860
0.648
ENST00000398855
0.648
ENST00000224721 (MANE Select)
0.648
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71784350G>T , CM000672.2:g.71784350G>T | GRCh38 |
| NC_000010.10:g.73544107G>T , CM000672.1:g.73544107G>T | GRCh37 |
| NC_000010.9:g.73214113G>T | NCBI36 |
| NG_008835.1:g.392404G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5432G>T MANE Select | ENSP00000224721.9:p.Arg1811Leu | |
| ENST00000224721.10:c.5447G>T | ENSP00000224721.8:p.Arg1816Leu | |
| ENST00000622827.4:c.5432G>T | ENSP00000483211.1:p.Arg1811Leu | |
| NM_022124.5:c.5432G>T | NP_071407.4:p.Arg1811Leu | |
| XM_006717940.2:c.5627G>T | XP_006718003.1:p.Arg1876Leu | |
| XM_006717942.2:c.5561G>T | XP_006718005.1:p.Arg1854Leu | |
| XM_011540039.1:c.5624G>T | XP_011538341.1:p.Arg1875Leu | |
| XM_011540040.1:c.5621G>T | XP_011538342.1:p.Arg1874Leu | |
| XM_011540041.1:c.5567G>T | XP_011538343.1:p.Arg1856Leu | |
| XM_011540042.1:c.5627G>T | XP_011538344.1:p.Arg1876Leu | |
| XM_011540043.1:c.5627G>T | XP_011538345.1:p.Arg1876Leu | |
| XM_011540044.1:c.5492G>T | XP_011538346.1:p.Arg1831Leu | |
| XM_011540045.1:c.5627G>T | XP_011538347.1:p.Arg1876Leu | |
| XM_011540046.1:c.5087G>T | XP_011538348.1:p.Arg1696Leu | |
| XM_011540047.1:c.4445G>T | XP_011538349.1:p.Arg1482Leu | |
| XM_011540048.1:c.5627G>T | XP_011538350.1:p.Arg1876Leu | |
| XM_011540049.1:c.5627G>T | XP_011538351.1:p.Arg1876Leu | |
| XM_011540050.1:c.5627G>T | XP_011538352.1:p.Arg1876Leu | |
| XM_011540051.1:c.5627G>T | XP_011538353.1:p.Arg1876Leu | |
| XM_011540052.1:c.1955G>T | XP_011538354.1:p.Arg652Leu | |
| XM_011540053.1:c.5627G>T | XP_011538355.1:p.Arg1876Leu | |
| XR_945796.1:n.5870G>T | ||
| NM_022124.6:c.5432G>T MANE Select | NP_071407.4:p.Arg1811Leu |