Linked Data
ClinVar Variation Id:
214301
dbSNP Id:
rs79520527
ExAC:
12:32873579 G / A
gnomAD v2:
12-32873579-G-A
gnomAD v3:
12-32720645-G-A
gnomAD v4:
12-32720645-G-A
MyVariant Identifiers:
chr12:g.32873579G>A (hg19)
chr12:g.32873579_32873580delinsAT (hg19)
chr12:g.32720645G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32720645G>A , CM000674.2:g.32720645G>A | GRCh38 |
| NC_000012.11:g.32873579G>A , CM000674.1:g.32873579G>A | GRCh37 |
| NC_000012.10:g.32764846G>A | NCBI36 |
| NG_012219.1:g.46443G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434676.7:c.*107-19G>A | ENSP00000390090.2:n.*107-19G>A | |
| ENST00000546757.6:c.*427-19G>A | ENSP00000448105.2:n.*427-19G>A | |
| ENST00000547078.6:c.780-19G>A | ENSP00000448802.2:n.780-19G>A | |
| ENST00000547719.2:n.2374-19G>A | ||
| ENST00000547932.6:c.*107-19G>A | ENSP00000515272.1:n.*107-19G>A | |
| ENST00000548671.6:c.*288-19G>A | ENSP00000515271.1:n.*288-19G>A | |
| ENST00000548750.6:c.654-19G>A | ENSP00000447788.2:n.654-19G>A | |
| ENST00000549926.6:c.294-19G>A | ENSP00000515263.1:n.294-19G>A | |
| ENST00000550011.6:c.*731-19G>A | ENSP00000515261.1:n.*731-19G>A | |
| ENST00000550093.6:n.828-19G>A | ||
| ENST00000551076.6:c.*358-19G>A | ENSP00000515275.1:n.*358-19G>A | |
| ENST00000551476.6:c.690-19G>A | ENSP00000447845.2:n.690-19G>A | |
| ENST00000551643.6:c.*572-19G>A | ENSP00000450401.1:n.*572-19G>A | |
| ENST00000703337.1:c.*538-19G>A | ENSP00000515262.1:n.*538-19G>A | |
| ENST00000703338.1:c.294-19G>A | ENSP00000515264.1:n.294-19G>A | |
| ENST00000703360.1:c.*427-19G>A | ENSP00000515270.1:n.*427-19G>A | |
| ENST00000703361.1:c.372-19G>A | ENSP00000515273.1:n.372-19G>A | |
| ENST00000703362.1:c.*107-19G>A | ENSP00000515274.1:n.*107-19G>A | |
| ENST00000703363.1:n.2362-19G>A | ||
| ENST00000703364.1:n.2439-19G>A | ||
| ENST00000703365.1:c.741-19G>A | ENSP00000515276.1:n.741-19G>A | |
| ENST00000703366.1:n.1775-19G>A | ||
| ENST00000703367.1:c.741-19G>A | ENSP00000515277.1:n.741-19G>A | |
| ENST00000703368.1:c.*288-19G>A | ENSP00000515278.1:n.*288-19G>A | |
| ENST00000703369.1:c.372-19G>A | ENSP00000515279.1:n.372-19G>A | |
| ENST00000703370.1:c.294-19G>A | ENSP00000515280.1:n.294-19G>A | |
| ENST00000703371.1:c.294-19G>A | ENSP00000515281.1:n.294-19G>A | |
| ENST00000703372.1:c.534-19G>A | ENSP00000515282.1:n.534-19G>A | |
| ENST00000549701.6:c.741-19G>A MANE Select | ENSP00000450399.1:n.741-19G>A | |
| ENST00000553257.6:c.780-19G>A MANE Plus Clinical | ENSP00000449089.1:n.780-19G>A | |
| ENST00000266481.10:c.741-19G>A | ENSP00000266481.6:n.741-19G>A | |
| ENST00000358214.9:c.780-19G>A | ENSP00000350948.5:n.780-19G>A | |
| ENST00000381000.8:c.780-19G>A | ENSP00000370388.4:n.780-19G>A | |
| ENST00000413295.6:c.533-19G>A | ENSP00000396030.2:n.533-19G>A | |
| ENST00000414834.6:c.132-19G>A | ENSP00000404160.2:n.132-19G>A | |
| ENST00000434676.6:c.*107-19G>A | ENSP00000390090.2:n.*107-19G>A | |
| ENST00000452533.6:c.741-19G>A | ENSP00000415131.2:n.741-19G>A | |
| ENST00000546649.5:c.337-19G>A | ENSP00000448936.1:n.337-19G>A | |
| ENST00000546757.5:c.592-19G>A | ENSP00000448105.1:n.592-19G>A | |
| ENST00000547312.5:c.741-19G>A | ENSP00000448610.1:n.741-19G>A | |
| ENST00000547548.1:n.247-19G>A | ||
| ENST00000548750.5:c.654-19G>A | ENSP00000447788.1:n.654-19G>A | |
| ENST00000549701.5:c.741-19G>A | ENSP00000450399.1:n.741-19G>A | |
| ENST00000553257.5:c.780-19G>A | ENSP00000449089.1:n.780-19G>A | |
| NM_001278463.1:c.741-19G>A | NP_001265392.1:n.741-19G>A | |
| NM_001278464.1:c.780-19G>A | NP_001265393.1:n.780-19G>A | |
| NM_001278465.1:c.780-19G>A | NP_001265394.1:n.780-19G>A | |
| NM_001278466.1:c.132-19G>A | NP_001265395.1:n.132-19G>A | |
| NM_005690.4:c.741-19G>A | NP_005681.2:n.741-19G>A | |
| NM_012062.4:c.741-19G>A | NP_036192.2:n.741-19G>A | |
| NM_012063.3:c.741-19G>A | NP_036193.2:n.741-19G>A | |
| XM_005253282.3:c.780-19G>A | XP_005253339.1:n.780-19G>A | |
| XM_005253283.3:c.294-19G>A | XP_005253340.1:n.294-19G>A | |
| XM_011520543.1:c.780-19G>A | XP_011518845.1:n.780-19G>A | |
| XM_011520544.1:c.84-19G>A | XP_011518846.1:n.84-19G>A | |
| NM_001330380.1:c.780-19G>A | NP_001317309.1:n.780-19G>A | |
| XM_011520543.3:c.780-19G>A | XP_011518845.1:n.780-19G>A | |
| XM_011520544.2:c.84-19G>A | XP_011518846.1:n.84-19G>A | |
| XM_017018663.2:c.84-19G>A | XP_016874152.1:n.84-19G>A | |
| XM_017018664.1:c.84-19G>A | XP_016874153.1:n.84-19G>A | |
| XM_017018665.1:c.84-19G>A | XP_016874154.1:n.84-19G>A | |
| NM_012062.5:c.741-19G>A MANE Select | NP_036192.2:n.741-19G>A | |
| NM_001278463.2:c.741-19G>A | NP_001265392.1:n.741-19G>A | |
| NM_001278464.2:c.780-19G>A MANE Plus Clinical | NP_001265393.1:n.780-19G>A | |
| NM_001278465.2:c.780-19G>A | NP_001265394.1:n.780-19G>A | |
| NM_001278466.2:c.132-19G>A | NP_001265395.1:n.132-19G>A | |
| NM_001330380.2:c.780-19G>A | NP_001317309.1:n.780-19G>A | |
| NM_005690.5:c.741-19G>A | NP_005681.2:n.741-19G>A | |
| NM_012063.4:c.741-19G>A | NP_036193.2:n.741-19G>A |