ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00007279 (EAS)
Exomes Max Group AF
0.00008219 (EAS)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186088713A>G , CM000663.2:g.186088713A>G | GRCh38 |
| NC_000001.10:g.186057845A>G , CM000663.1:g.186057845A>G | GRCh37 |
| NC_000001.9:g.184324468A>G | NCBI36 |
| NG_011841.1:g.359163A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.9685A>G MANE Select | ENSP00000271588.4:p.Met3229Val | |
| ENST00000271588.8:c.9685A>G | ENSP00000271588.4:p.Met3229Val | |
| NM_031935.2:c.9685A>G | NP_114141.2:p.Met3229Val | |
| XM_011510037.1:c.9400A>G | XP_011508339.1:p.Met3134Val | |
| XM_011510038.1:c.9685A>G | XP_011508340.1:p.Met3229Val | |
| XM_011510039.1:c.9685A>G | XP_011508341.1:p.Met3229Val | |
| XM_011510040.1:c.9685A>G | XP_011508342.1:p.Met3229Val | |
| XM_011510038.3:c.9685A>G | XP_011508340.1:p.Met3229Val | |
| XM_017002437.1:c.7708A>G | XP_016857926.1:p.Met2570Val | |
| XM_024450118.1:c.9685A>G | XP_024305886.1:p.Met3229Val | |
| NM_031935.3:c.9685A>G MANE Select | NP_114141.2:p.Met3229Val |