ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00037751 (AFR)
Genomes Max Group AF
0.0004593 (AFR)
Exomes Max Group AF
0.0001714 (AFR)
Revel Score:
ENST00000342773
0.044
ENST00000538735
0.044
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100572697C>G , CM000669.2:g.100572697C>G | GRCh38 |
| NC_000007.13:g.100170320C>G , CM000669.1:g.100170320C>G | GRCh37 |
| NC_000007.12:g.100008256C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622764.3:c.566G>C MANE Select | ENSP00000481773.2:p.Arg189Pro | |
| ENST00000538735.5:c.272G>C | ENSP00000442339.1:p.Arg91Pro | |
| ENST00000611464.1:n.370G>C | ||
| ENST00000614631.4:c.272G>C | ENSP00000481351.1:p.Arg91Pro | |
| ENST00000622764.2:c.566G>C | ENSP00000481773.2:p.Arg189Pro | |
| NM_001168682.1:c.272G>C | NP_001162153.1:p.Arg91Pro | |
| XM_005250096.2:c.566G>C | XP_005250153.1:p.Arg189Pro | |
| XM_006715822.2:c.545G>C | XP_006715885.1:p.Arg182Pro | |
| NM_001168682.2:c.545G>C | NP_001162153.2:p.Arg182Pro | |
| NM_001348677.1:c.272G>C | NP_001335606.1:p.Arg91Pro | |
| NM_001348680.1:c.566G>C | NP_001335609.1:p.Arg189Pro | |
| NM_001348680.2:c.566G>C MANE Select | NP_001335609.1:p.Arg189Pro | |
| NM_001168682.3:c.545G>C | NP_001162153.2:p.Arg182Pro | |
| NM_001348677.2:c.272G>C | NP_001335606.1:p.Arg91Pro |