Linked Data
ClinVar Variation Id:
2141423
ClinVar RCV Id:
RCV003073945
dbSNP Id:
rs201727970
ExAC:
16:56904076 G / A
gnomAD v2:
16-56904076-G-A
gnomAD v3:
16-56870164-G-A
gnomAD v4:
16-56870164-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56870164G>A , CM000678.2:g.56870164G>A | GRCh38 |
| NC_000016.9:g.56904076G>A , CM000678.1:g.56904076G>A | GRCh37 |
| NC_000016.8:g.55461577G>A | NCBI36 |
| NG_009386.1:g.9958G>A | |
| NG_009386.2:g.9958G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.670G>A MANE Select | ENSP00000456149.2:p.Ala224Thr | |
| ENST00000262502.5:c.667G>A | ENSP00000262502.5:p.Ala223Thr | |
| ENST00000438926.6:c.670G>A | ENSP00000402152.2:p.Ala224Thr | |
| ENST00000563236.5:c.670G>A | ENSP00000456149.1:p.Ala224Thr | |
| ENST00000566786.5:c.667G>A | ENSP00000457552.1:p.Ala223Thr | |
| NM_000339.2:c.670G>A | NP_000330.2:p.Ala224Thr | |
| NM_001126107.1:c.667G>A | NP_001119579.1:p.Ala223Thr | |
| NM_001126108.1:c.670G>A | NP_001119580.1:p.Ala224Thr | |
| XM_005256119.1:c.667G>A | XP_005256176.1:p.Ala223Thr | |
| XM_005256119.2:c.667G>A | XP_005256176.1:p.Ala223Thr | |
| NM_000339.3:c.670G>A | NP_000330.3:p.Ala224Thr | |
| NM_001126107.2:c.667G>A | NP_001119579.2:p.Ala223Thr | |
| NM_001126108.2:c.670G>A MANE Select | NP_001119580.2:p.Ala224Thr |