Revel Score:
ENST00000261304 (MANE Select)
0.932
ENST00000544807
0.932
ENST00000393569
0.932
ENST00000393568
0.932
ENST00000445021
0.932
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87986552G>C , CM000676.2:g.87986552G>C | GRCh38 |
| NC_000014.8:g.88452896G>C , CM000676.1:g.88452896G>C | GRCh37 |
| NC_000014.7:g.87522649G>C | NCBI36 |
| NG_011853.2:g.12012C>G | |
| NG_011853.3:g.12012C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.379C>G MANE Select | ENSP00000261304.2:p.Arg127Gly | |
| ENST00000261304.6:c.379C>G | ENSP00000261304.2:p.Arg127Gly | |
| ENST00000393568.8:c.310C>G | ENSP00000377198.4:p.Arg104Gly | |
| ENST00000393569.6:c.301C>G | ENSP00000377199.2:p.Arg101Gly | |
| ENST00000474294.6:n.369C>G | ||
| ENST00000544807.6:c.211C>G | ENSP00000437513.2:p.Arg71Gly | |
| ENST00000554372.5:c.*128C>G | ENSP00000451884.1:n.*128C>G | |
| ENST00000554916.5:n.258C>G | ||
| ENST00000556261.5:n.80C>G | ||
| ENST00000556879.5:c.439C>G | ENSP00000452208.1:n.439C>G | |
| ENST00000557316.5:c.379C>G | ENSP00000452314.1:p.Arg127Gly | |
| ENST00000622264.4:c.369C>G | ||
| NM_000153.3:c.379C>G | NP_000144.2:p.Arg127Gly | |
| NM_001201401.1:c.310C>G | NP_001188330.1:p.Arg104Gly | |
| NM_001201402.1:c.301C>G | NP_001188331.1:p.Arg101Gly | |
| XM_011536618.1:c.211C>G | XP_011534920.1:p.Arg71Gly | |
| XM_011536618.2:c.211C>G | XP_011534920.1:p.Arg71Gly | |
| NM_000153.4:c.379C>G MANE Select | NP_000144.2:p.Arg127Gly | |
| NM_001201401.2:c.310C>G | NP_001188330.1:p.Arg104Gly | |
| NM_001201402.2:c.301C>G | NP_001188331.1:p.Arg101Gly |