Linked Data
ClinVar Variation Id:
282803
dbSNP Id:
rs182820275
ExAC:
12:53721954 C / T
gnomAD v2:
12-53721954-C-T
gnomAD v3:
12-53328170-C-T
gnomAD v4:
12-53328170-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53328170C>T , CM000674.2:g.53328170C>T | GRCh38 |
| NC_000012.11:g.53721954C>T , CM000674.1:g.53721954C>T | GRCh37 |
| NC_000012.10:g.52008221C>T | NCBI36 |
| NG_023391.1:g.13051G>A | |
| NG_023391.2:g.21624G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536324.4:c.1272G>A MANE Select | ENSP00000443827.2:p.Glu424= | |
| ENST00000303846.3:c.1272G>A | ENSP00000302812.3:p.Glu424= | |
| ENST00000536324.3:c.1272G>A | ENSP00000443827.2:p.Glu424= | |
| ENST00000537210.2:c.1218G>A | ENSP00000441367.2:p.Glu406= | |
| NM_001173467.2:c.1272G>A | NP_001166938.1:p.Glu424= | |
| NM_001300837.1:c.1218G>A | NP_001287766.1:p.Glu406= | |
| NM_152860.1:c.1272G>A | NP_690599.1:p.Glu424= | |
| XM_011537900.1:c.1218G>A | XP_011536202.1:p.Glu406= | |
| XM_011537901.1:c.1218G>A | XP_011536203.1:p.Glu406= | |
| XM_011537900.2:c.1218G>A | XP_011536202.1:p.Glu406= | |
| NM_001173467.3:c.1272G>A MANE Select | NP_001166938.1:p.Glu424= | |
| NM_152860.2:c.1272G>A | NP_690599.1:p.Glu424= | |
| NM_001300837.2:c.1218G>A | NP_001287766.1:p.Glu406= |