Linked Data
ClinVar Variation Id:
421523
dbSNP Id:
rs138121813
ExAC:
12:41419072 G / A
gnomAD v2:
12-41419072-G-A
gnomAD v3:
12-41025270-G-A
gnomAD v4:
12-41025270-G-A
COSMIC:
COSM3700274
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.41025270G>A , CM000674.2:g.41025270G>A | GRCh38 |
| NC_000012.11:g.41419072G>A , CM000674.1:g.41419072G>A | GRCh37 |
| NC_000012.10:g.39705339G>A | NCBI36 |
| NG_012058.2:g.337715G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551295.7:c.2644G>A MANE Select | ENSP00000447006.1:p.Gly882Arg | |
| ENST00000347616.5:c.2644G>A | ENSP00000325660.3:p.Gly882Arg | |
| ENST00000348761.2:c.2611G>A | ENSP00000261160.3:p.Gly871Arg | |
| ENST00000550305.1:n.603G>A | ||
| ENST00000551295.6:c.2644G>A | ENSP00000447006.1:p.Gly882Arg | |
| NM_001843.3:c.2644G>A | NP_001834.2:p.Gly882Arg | |
| NM_175038.2:c.2611G>A | NP_778203.1:p.Gly871Arg | |
| XM_005268651.1:c.2644G>A | XP_005268708.1:p.Gly882Arg | |
| XM_006719241.1:c.2644G>A | XP_006719304.1:p.Gly882Arg | |
| XM_011537926.1:c.2644G>A | XP_011536228.1:p.Gly882Arg | |
| XM_011537927.1:c.2644G>A | XP_011536229.1:p.Gly882Arg | |
| XM_005268651.2:c.2644G>A | XP_005268708.1:p.Gly882Arg | |
| XM_006719241.2:c.2644G>A | XP_006719304.1:p.Gly882Arg | |
| XM_011537926.3:c.2644G>A | XP_011536228.1:p.Gly882Arg | |
| XM_011537927.2:c.2644G>A | XP_011536229.1:p.Gly882Arg | |
| XR_002957288.1:n.2866G>A | ||
| XR_002957289.1:n.2987G>A | ||
| XR_002957290.1:n.3234G>A | ||
| XR_002957291.1:n.2858G>A | ||
| NM_001843.4:c.2644G>A MANE Select | NP_001834.2:p.Gly882Arg |