Revel Score:
ENST00000361505 (MANE Select)
0.867
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00019675 (NFE)
Genomes Max Group AF
0.00005841 (NFE)
Exomes Max Group AF
0.00020257 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20476432G>C , CM000676.2:g.20476432G>C | GRCh38 |
| NC_000014.8:g.20944591G>C , CM000676.1:g.20944591G>C | GRCh37 |
| NC_000014.7:g.20014431G>C | NCBI36 |
| NG_009631.1:g.12050G>C , LRG_91:g.12050G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553591.2:c.818G>C | ENSP00000452421.2:p.Arg273Pro | |
| ENST00000556293.6:n.3124G>C | ||
| ENST00000556754.2:n.4067G>C | ||
| ENST00000557229.6:n.1130G>C | ||
| ENST00000697613.1:c.701G>C | ENSP00000513359.1:p.Arg234Pro | |
| ENST00000697614.1:c.464G>C | ENSP00000513360.1:p.Arg155Pro | |
| ENST00000697615.1:n.1529G>C | ||
| ENST00000361505.10:c.701G>C MANE Select | ENSP00000354532.6:p.Arg234Pro | |
| ENST00000361505.9:c.701G>C | ENSP00000354532.5:p.Arg234Pro | |
| ENST00000554056.5:n.1009G>C | ||
| ENST00000556754.1:n.1918G>C | ||
| NM_000270.3:c.701G>C , LRG_91t1:c.701G>C | NP_000261.2:p.Arg234Pro | |
| NM_000270.4:c.701G>C MANE Select | NP_000261.2:p.Arg234Pro |