ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00172484 (NFE)
Genomes Max Group AF
0.00157549 (NFE)
Exomes Max Group AF
0.00171973 (NFE)
MyVariant.info:
GRCh38
chr9:g.133449865G>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133449865G>A , CM000671.2:g.133449865G>A | GRCh38 |
| NC_000009.10:g.135304807G>A | NCBI36 |
| NG_011934.2:g.40527G>A , LRG_544:g.40527G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.2944G>A MANE Select | ENSP00000347927.2:p.Gly982Arg | |
| ENST00000355699.6:c.2944G>A | ENSP00000347927.2:p.Gly982Arg | |
| ENST00000356589.6:c.2851G>A | ENSP00000348997.2:p.Gly951Arg | |
| ENST00000371916.5:c.*413G>A | ENSP00000360984.2:n.*413G>A | |
| ENST00000371929.7:c.2944G>A | ENSP00000360997.3:p.Gly982Arg | |
| ENST00000485925.5:n.1760G>A | ||
| ENST00000495234.5:c.*1776G>A | ENSP00000435274.1:n.*1776G>A | |
| NM_139025.4:c.2944G>A , LRG_544t1:c.2944G>A | NP_620594.1:p.Gly982Arg | |
| NM_139026.4:c.2851G>A | NP_620595.1:p.Gly951Arg | |
| NM_139027.4:c.2944G>A | NP_620596.2:p.Gly982Arg | |
| NR_024514.2:n.1779G>A | ||
| XM_011518174.1:c.2554G>A | XP_011516476.1:p.Gly852Arg | |
| XM_011518175.1:c.2944G>A | XP_011516477.1:p.Gly982Arg | |
| XM_011518176.1:c.1960G>A | XP_011516478.1:p.Gly654Arg | |
| XM_011518177.1:c.1954G>A | XP_011516479.1:p.Gly652Arg | |
| XM_011518178.1:c.1609G>A | XP_011516480.1:p.Gly537Arg | |
| XM_011518179.1:c.1609G>A | XP_011516481.1:p.Gly537Arg | |
| XM_011518180.1:c.1210G>A | XP_011516482.1:p.Gly404Arg | |
| XM_011518176.3:c.1960G>A | XP_011516478.1:p.Gly654Arg | |
| XM_011518178.2:c.1609G>A | XP_011516480.1:p.Gly537Arg | |
| XM_017014232.1:c.2932G>A | XP_016869721.1:p.Gly978Arg | |
| XM_017014233.1:c.2554G>A | XP_016869722.1:p.Gly852Arg | |
| XM_017014234.2:c.1954G>A | XP_016869723.1:p.Gly652Arg | |
| XR_001746171.1:n.3717G>A | ||
| NM_139026.5:c.2851G>A | NP_620595.1:p.Gly951Arg | |
| NM_139027.5:c.2944G>A | NP_620596.2:p.Gly982Arg | |
| NM_139025.5:c.2944G>A | NP_620594.1:p.Gly982Arg | |
| NM_139026.6:c.2851G>A | NP_620595.1:p.Gly951Arg | |
| NM_139027.6:c.2944G>A MANE Select | NP_620596.2:p.Gly982Arg | |
| NR_024514.3:n.1781G>A |