Linked Data
ClinVar Variation Id:
349114
dbSNP Id:
rs12513091
ExAC:
4:57333822 G / T
gnomAD v2:
4-57333822-G-T
gnomAD v3:
4-56467656-G-T
gnomAD v4:
4-56467656-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.56467656G>T , CM000666.2:g.56467656G>T | GRCh38 |
| NC_000004.11:g.57333822G>T , CM000666.1:g.57333822G>T | GRCh37 |
| NC_000004.10:g.57028579G>T | NCBI36 |
| NG_032796.1:g.5061G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510663.6:c.21G>T | ENSP00000424576.1:p.Gly7= | |
| ENST00000642900.1:c.21G>T MANE Select | ENSP00000495128.1:p.Gly7= | |
| ENST00000342756.9:c.21G>T | ENSP00000342181.5:p.Gly7= | |
| ENST00000504757.2:c.21G>T | ENSP00000473576.1:p.Gly7= | |
| ENST00000510663.5:c.21G>T | ENSP00000424576.1:p.Gly7= | |
| NM_001267722.1:c.21G>T | NP_001254651.1:p.Gly7= | |
| NM_006947.3:c.21G>T | NP_008878.3:p.Gly7= | |
| XM_005265765.3:c.21G>T | XP_005265822.2:p.Gly7= | |
| NM_006947.4:c.21G>T MANE Select | NP_008878.3:p.Gly7= | |
| NR_151856.1:n.61G>T | ||
| XM_024454192.1:c.21G>T | XP_024309960.1:p.Gly7= | |
| NM_001267722.2:c.21G>T | NP_001254651.1:p.Gly7= | |
| NR_151856.2:n.40G>T |