Revel Score:
ENST00000407721
0.959
ENST00000355527 (MANE Select)
0.959
ENST00000533800
0.959
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435593G>C , CM000673.2:g.71435593G>C | GRCh38 |
| NC_000011.9:g.71146639G>C , CM000673.1:g.71146639G>C | GRCh37 |
| NC_000011.8:g.70824287G>C | NCBI36 |
| NG_012655.2:g.17839C>G , LRG_340:g.17839C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1210C>G | ENSP00000435707.3:p.Arg404Gly | |
| ENST00000526780.6:c.1210C>G | ENSP00000435668.2:p.Arg404Gly | |
| ENST00000527316.6:c.1036C>G | ENSP00000435047.2:p.Arg346Gly | |
| ENST00000682708.1:c.1261C>G | ENSP00000506866.1:p.Arg421Gly | |
| ENST00000683287.1:c.1246C>G | ENSP00000507607.1:p.Arg416Gly | |
| ENST00000683714.1:c.1218C>G | ENSP00000508207.1:p.Pro406= | |
| ENST00000684396.1:n.1250C>G | ||
| ENST00000685320.1:c.625C>G | ENSP00000509319.1:p.Arg209Gly | |
| ENST00000690257.1:c.1114C>G | ENSP00000510750.1:p.Arg372Gly | |
| ENST00000355527.8:c.1210C>G MANE Select | ENSP00000347717.4:p.Arg404Gly | |
| ENST00000355527.7:c.1210C>G | ENSP00000347717.3:p.Arg404Gly | |
| ENST00000407721.6:c.1210C>G | ENSP00000384739.2:p.Arg404Gly | |
| ENST00000525137.1:c.711C>G | ENSP00000435956.1:p.Pro237= | |
| ENST00000533800.5:c.460C>G | ENSP00000435011.1:p.Arg154Gly | |
| ENST00000534795.5:c.319+2219C>G | ||
| NM_001163817.1:c.1210C>G | NP_001157289.1:p.Arg404Gly | |
| NM_001360.2:c.1210C>G , LRG_340t1:c.1210C>G | NP_001351.2:p.Arg404Gly | |
| XM_011544777.1:c.1344C>G | XP_011543079.1:p.Pro448= | |
| XM_011544777.2:c.1344C>G | XP_011543079.1:p.Pro448= | |
| NM_001163817.2:c.1210C>G | NP_001157289.1:p.Arg404Gly | |
| NM_001360.3:c.1210C>G MANE Select | NP_001351.2:p.Arg404Gly |