Revel Score:
ENST00000155840 (MANE Select)
0.884
ENST00000335475
0.884
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2778024G>C , CM000673.2:g.2778024G>C | GRCh38 |
| NC_000011.9:g.2799254G>C , CM000673.1:g.2799254G>C | GRCh37 |
| NC_000011.8:g.2755830G>C | NCBI36 |
| NG_008935.1:g.338034G>C , LRG_287:g.338034G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1424G>C | ENSP00000434560.2:p.Arg475Pro | |
| ENST00000646564.2:c.1241G>C | ENSP00000495806.2:p.Arg414Pro | |
| ENST00000155840.12:c.1781G>C MANE Select | ENSP00000155840.2:p.Arg594Pro | |
| ENST00000335475.6:c.1400G>C | ENSP00000334497.5:p.Arg467Pro | |
| ENST00000526095.2:c.185G>C | ENSP00000494939.1:p.Arg62Pro | |
| ENST00000646564.1:c.887G>C | ENSP00000495806.1:p.Arg296Pro | |
| ENST00000155840.9:c.1781G>C | ENSP00000155840.2:p.Arg594Pro | |
| ENST00000335475.5:c.1400G>C | ENSP00000334497.5:p.Arg467Pro | |
| ENST00000526095.1:n.288G>C | ||
| NM_000218.2:c.1781G>C , LRG_287t1:c.1781G>C | NP_000209.2:p.Arg594Pro | |
| NM_181798.1:c.1400G>C , LRG_287t2:c.1400G>C | NP_861463.1:p.Arg467Pro | |
| NM_000218.3:c.1781G>C MANE Select | NP_000209.2:p.Arg594Pro |