Revel Score:
ENST00000155840 (MANE Select)
0.693
ENST00000335475
0.693
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2587630C>G , CM000673.2:g.2587630C>G | GRCh38 |
| NC_000011.9:g.2608860C>G , CM000673.1:g.2608860C>G | GRCh37 |
| NC_000011.8:g.2565436C>G | NCBI36 |
| NG_008935.1:g.147640C>G , LRG_287:g.147640C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.832C>G | ENSP00000434560.2:p.Arg278Gly | |
| ENST00000646564.2:c.649C>G | ENSP00000495806.2:p.Arg217Gly | |
| ENST00000155840.12:c.1189C>G MANE Select | ENSP00000155840.2:p.Arg397Gly | |
| ENST00000335475.6:c.808C>G | ENSP00000334497.5:p.Arg270Gly | |
| ENST00000646564.1:c.295C>G | ENSP00000495806.1:p.Arg99Gly | |
| ENST00000155840.9:c.1189C>G | ENSP00000155840.2:p.Arg397Gly | |
| ENST00000335475.5:c.808C>G | ENSP00000334497.5:p.Arg270Gly | |
| NM_000218.2:c.1189C>G , LRG_287t1:c.1189C>G | NP_000209.2:p.Arg397Gly | |
| NM_181798.1:c.808C>G , LRG_287t2:c.808C>G | NP_861463.1:p.Arg270Gly | |
| NM_000218.3:c.1189C>G MANE Select | NP_000209.2:p.Arg397Gly |