Revel Score:
ENST00000155840 (MANE Select)
0.594
ENST00000335475
0.594
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09608321 (EAS)
Genomes Max Group AF
0.08405277 (EAS)
Exomes Max Group AF
0.09691169 (EAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2588804C>G , CM000673.2:g.2588804C>G | GRCh38 |
| NC_000011.9:g.2610034C>G , CM000673.1:g.2610034C>G | GRCh37 |
| NC_000011.8:g.2566610C>G | NCBI36 |
| NG_008935.1:g.148814C>G , LRG_287:g.148814C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.986C>G | ENSP00000434560.2:p.Pro329Arg | |
| ENST00000646564.2:c.803C>G | ENSP00000495806.2:p.Pro268Arg | |
| ENST00000155840.12:c.1343C>G MANE Select | ENSP00000155840.2:p.Pro448Arg | |
| ENST00000335475.6:c.962C>G | ENSP00000334497.5:p.Pro321Arg | |
| ENST00000646564.1:c.449C>G | ENSP00000495806.1:p.Pro150Arg | |
| ENST00000155840.9:c.1343C>G | ENSP00000155840.2:p.Pro448Arg | |
| ENST00000335475.5:c.962C>G | ENSP00000334497.5:p.Pro321Arg | |
| NM_000218.2:c.1343C>G , LRG_287t1:c.1343C>G | NP_000209.2:p.Pro448Arg | |
| NM_181798.1:c.962C>G , LRG_287t2:c.962C>G | NP_861463.1:p.Pro321Arg | |
| NM_000218.3:c.1343C>G MANE Select | NP_000209.2:p.Pro448Arg |