Revel Score:
ENST00000376251
0.024
ENST00000323022 (MANE Select)
0.024
ENST00000376265
0.024
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49205282C>A , CM000685.2:g.49205282C>A | GRCh38 |
| NC_000023.10:g.49061742C>A , CM000685.1:g.49061742C>A | GRCh37 |
| NC_000023.9:g.48948686C>A | NCBI36 |
| NG_009095.2:g.33085G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.5756G>T MANE Select | ENSP00000321618.6:p.Arg1919Leu | |
| ENST00000323022.9:c.5756G>T | ENSP00000321618.5:p.Arg1919Leu | |
| ENST00000376251.5:c.5594G>T | ENSP00000365427.1:p.Arg1865Leu | |
| ENST00000376265.2:c.5789G>T | ENSP00000365441.2:p.Arg1930Leu | |
| NM_001256789.2:c.5756G>T | NP_001243718.1:p.Arg1919Leu | |
| NM_001256790.2:c.5594G>T | NP_001243719.1:p.Arg1865Leu | |
| NM_005183.3:c.5789G>T | NP_005174.2:p.Arg1930Leu | |
| XM_011543983.1:c.5573G>T | XP_011542285.1:p.Arg1858Leu | |
| XM_011543983.2:c.5573G>T | XP_011542285.1:p.Arg1858Leu | |
| XM_017029836.1:c.2939G>T | XP_016885325.1:p.Arg980Leu | |
| NM_001256789.3:c.5756G>T MANE Select | NP_001243718.1:p.Arg1919Leu | |
| NM_001256790.3:c.5594G>T | NP_001243719.1:p.Arg1865Leu | |
| NM_005183.4:c.5789G>T | NP_005174.2:p.Arg1930Leu |