Revel Score:
ENST00000298251 (MANE Select)
0.052
ENST00000374961
0.052
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90149744 (EAS)
Genomes Max Group AF
0.88027749 (EAS)
Exomes Max Group AF
0.90193826 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124923786T>C , CM000673.2:g.124923786T>C | GRCh38 |
| NC_000011.9:g.124793682T>C , CM000673.1:g.124793682T>C | GRCh37 |
| NC_000011.8:g.124298892T>C | NCBI36 |
| NG_029603.1:g.17627A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703807.1:c.652A>G | ENSP00000515485.1:p.Met218Val | |
| ENST00000298251.5:c.652A>G MANE Select | ENSP00000298251.4:p.Met218Val | |
| ENST00000298251.4:c.652A>G | ENSP00000298251.4:p.Met218Val | |
| ENST00000526273.1:n.424A>G | ||
| NM_152722.4:c.652A>G | NP_689935.2:p.Met218Val | |
| XM_005271449.1:c.652A>G | XP_005271506.1:p.Met218Val | |
| XM_006718786.1:c.652A>G | XP_006718849.1:p.Met218Val | |
| XM_011542669.1:c.652A>G | XP_011540971.1:p.Met218Val | |
| XM_005271449.2:c.652A>G | XP_005271506.1:p.Met218Val | |
| XM_017017361.1:c.652A>G | XP_016872850.1:p.Met218Val | |
| XR_001748429.2:n.325-19614T>C | ||
| NM_152722.5:c.652A>G MANE Select | NP_689935.2:p.Met218Val |