Revel Score:
ENST00000261304 (MANE Select)
0.316
ENST00000544807
0.316
ENST00000393569
0.316
ENST00000393568
0.316
ENST00000445021
0.316
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87984426G>C , CM000676.2:g.87984426G>C | GRCh38 |
| NC_000014.8:g.88450770G>C , CM000676.1:g.88450770G>C | GRCh37 |
| NC_000014.7:g.87520523G>C | NCBI36 |
| NG_011853.2:g.14138C>G | |
| NG_011853.3:g.14138C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.550C>G MANE Select | ENSP00000261304.2:p.Arg184Gly | |
| ENST00000261304.6:c.550C>G | ENSP00000261304.2:p.Arg184Gly | |
| ENST00000393568.8:c.481C>G | ENSP00000377198.4:p.Arg161Gly | |
| ENST00000393569.6:c.472C>G | ENSP00000377199.2:p.Arg158Gly | |
| ENST00000474294.6:n.540C>G | ||
| ENST00000544807.6:c.382C>G | ENSP00000437513.2:p.Arg128Gly | |
| ENST00000554372.5:c.*299C>G | ENSP00000451884.1:n.*299C>G | |
| ENST00000554916.5:n.429C>G | ||
| ENST00000556261.5:n.251C>G | ||
| ENST00000557316.5:c.550C>G | ENSP00000452314.1:p.Arg184Gly | |
| ENST00000622264.4:c.540C>G | ||
| NM_000153.3:c.550C>G | NP_000144.2:p.Arg184Gly | |
| NM_001201401.1:c.481C>G | NP_001188330.1:p.Arg161Gly | |
| NM_001201402.1:c.472C>G | NP_001188331.1:p.Arg158Gly | |
| XM_011536618.1:c.382C>G | XP_011534920.1:p.Arg128Gly | |
| XM_011536618.2:c.382C>G | XP_011534920.1:p.Arg128Gly | |
| NM_000153.4:c.550C>G MANE Select | NP_000144.2:p.Arg184Gly | |
| NM_001201401.2:c.481C>G | NP_001188330.1:p.Arg161Gly | |
| NM_001201402.2:c.472C>G | NP_001188331.1:p.Arg158Gly |