ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101276591C>G , CM000677.2:g.101276591C>G | GRCh38 |
| NC_000015.9:g.101816796C>G , CM000677.1:g.101816796C>G | GRCh37 |
| NC_000015.8:g.99634319C>G | NCBI36 |
| NG_013322.1:g.5905G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526049.6:c.161G>C MANE Select | ENSP00000433541.1:p.Arg54Pro | |
| ENST00000398226.7:c.161G>C | ENSP00000381282.3:p.Arg54Pro | |
| ENST00000526043.1:n.881G>C | ||
| ENST00000526049.5:c.161G>C | ENSP00000433541.1:p.Arg54Pro | |
| ENST00000527833.5:n.185G>C | ||
| ENST00000528346.1:c.281G>C | ENSP00000434842.1:p.Arg94Pro | |
| ENST00000529968.1:n.244G>C | ||
| ENST00000531964.5:c.92G>C | ENSP00000433803.1:p.Arg31Pro | |
| ENST00000534014.1:n.197G>C | ||
| NM_018445.5:c.161G>C | NP_060915.2:p.Arg54Pro | |
| NM_203472.2:c.161G>C | NP_982298.2:p.Arg54Pro | |
| NM_018445.6:c.161G>C MANE Select | NP_060915.2:p.Arg54Pro | |
| NM_203472.3:c.161G>C | NP_982298.2:p.Arg54Pro |