Revel Score:
ENST00000320623 (MANE Select)
0.058
ENST00000379047
0.058
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69714966G>C , CM000678.2:g.69714966G>C | GRCh38 |
| NC_000016.9:g.69748869G>C , CM000678.1:g.69748869G>C | GRCh37 |
| NC_000016.8:g.68306370G>C | NCBI36 |
| NG_011504.1:g.16665C>G | |
| NG_011504.2:g.16665C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320623.10:c.415C>G MANE Select | ENSP00000319788.5:p.Arg139Gly | |
| ENST00000320623.9:c.415C>G | ENSP00000319788.5:p.Arg139Gly | |
| ENST00000379046.6:c.304-1837C>G | ENSP00000368334.2:n.304-1837C>G | |
| ENST00000379047.7:c.415C>G | ENSP00000368335.3:p.Arg139Gly | |
| ENST00000439109.6:c.303+3157C>G | ENSP00000398330.2:n.303+3157C>G | |
| ENST00000561500.5:c.304-1837C>G | ENSP00000456282.1:n.304-1837C>G | |
| ENST00000564043.1:c.352C>G | ENSP00000455020.1:p.Arg118Gly | |
| NM_000903.2:c.415C>G | NP_000894.1:p.Arg139Gly | |
| NM_001025433.1:c.415C>G | NP_001020604.1:p.Arg139Gly | |
| NM_001025434.1:c.304-1837C>G | NP_001020605.1:n.304-1837C>G | |
| NM_001286137.1:c.303+3157C>G | NP_001273066.1:n.303+3157C>G | |
| NM_000903.3:c.415C>G MANE Select | NP_000894.1:p.Arg139Gly | |
| NM_001025433.2:c.415C>G | NP_001020604.1:p.Arg139Gly | |
| NM_001025434.2:c.304-1837C>G | NP_001020605.1:n.304-1837C>G | |
| NM_001286137.2:c.303+3157C>G | NP_001273066.1:n.303+3157C>G |