Revel Score:
ENST00000496887
0.937
ENST00000155840 (MANE Select)
0.937
ENST00000335475
0.937
gnomAD v2:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570652G>C , CM000673.2:g.2570652G>C | GRCh38 |
| NC_000011.9:g.2591882G>C , CM000673.1:g.2591882G>C | GRCh37 |
| NC_000011.8:g.2548458G>C | NCBI36 |
| NG_008935.1:g.130662G>C , LRG_287:g.130662G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.241G>C | ENSP00000434560.2:p.Gly81Arg | |
| ENST00000646564.2:c.478-12783G>C | ENSP00000495806.2:n.478-12783G>C | |
| ENST00000155840.12:c.502G>C MANE Select | ENSP00000155840.2:p.Gly168Arg | |
| ENST00000335475.6:c.121G>C | ENSP00000334497.5:p.Gly41Arg | |
| ENST00000646564.1:c.124-12783G>C | ENSP00000495806.1:n.124-12783G>C | |
| ENST00000155840.9:c.502G>C | ENSP00000155840.2:p.Gly168Arg | |
| ENST00000335475.5:c.121G>C | ENSP00000334497.5:p.Gly41Arg | |
| ENST00000496887.6:c.241G>C | ENSP00000434560.1:p.Gly81Arg | |
| NM_000218.2:c.502G>C , LRG_287t1:c.502G>C | NP_000209.2:p.Gly168Arg | |
| NM_181798.1:c.121G>C , LRG_287t2:c.121G>C | NP_861463.1:p.Gly41Arg | |
| NM_000218.3:c.502G>C MANE Select | NP_000209.2:p.Gly168Arg |