ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003472 (AFR)
Genomes Max Group AF
0.0000192 (AFR)
Exomes Max Group AF
0.00002374 (AFR)
Revel Score:
ENST00000401061 (MANE Select)
0.939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45508847C>G , CM000663.2:g.45508847C>G | GRCh38 |
| NC_000001.10:g.45974519C>G , CM000663.1:g.45974519C>G | GRCh37 |
| NC_000001.9:g.45747106C>G | NCBI36 |
| NG_013378.1:g.13664C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.481C>G MANE Select | ENSP00000383840.4:p.Arg161Gly | |
| ENST00000401061.8:c.481C>G | ENSP00000383840.4:p.Arg161Gly | |
| ENST00000616135.1:c.310C>G | ENSP00000478859.1:p.Arg104Gly | |
| NM_015506.2:c.481C>G | NP_056321.2:p.Arg161Gly | |
| XM_005270724.3:c.286C>G | XP_005270781.1:p.Arg96Gly | |
| XM_011541204.1:c.310C>G | XP_011539506.1:p.Arg104Gly | |
| NM_001330540.1:c.310C>G | NP_001317469.1:p.Arg104Gly | |
| XM_005270724.5:c.286C>G | XP_005270781.1:p.Arg96Gly | |
| NM_015506.3:c.481C>G MANE Select | NP_056321.2:p.Arg161Gly | |
| NM_001330540.2:c.310C>G | NP_001317469.1:p.Arg104Gly |