Linked Data
ClinVar Variation Id:
390136
dbSNP Id:
rs370334235
ExAC:
1:2985844 G / A
gnomAD v2:
1-2985844-G-A
gnomAD v3:
1-3069280-G-A
gnomAD v4:
1-3069280-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3069280G>A , CM000663.2:g.3069280G>A | GRCh38 |
| NC_000001.10:g.2985844G>A , CM000663.1:g.2985844G>A | GRCh37 |
| NC_000001.9:g.2975704G>A | NCBI36 |
| NG_029576.1:g.5103G>A | |
| NG_029576.2:g.5103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270722.10:c.21G>A MANE Select | ENSP00000270722.5:p.Ala7= | |
| ENST00000270722.9:c.21G>A | ENSP00000270722.5:p.Ala7= | |
| ENST00000378391.6:c.21G>A | ENSP00000367643.2:p.Ala7= | |
| ENST00000511072.5:c.21G>A | ENSP00000426975.1:p.Ala7= | |
| ENST00000514189.5:c.21G>A | ENSP00000421400.1:p.Ala7= | |
| ENST00000607632.1:n.98G>A | ||
| NM_022114.3:c.21G>A | NP_071397.3:p.Ala7= | |
| NM_199454.2:c.21G>A | NP_955533.2:p.Ala7= | |
| XM_005244772.3:c.21G>A | XP_005244829.1:p.Ala7= | |
| XM_005244773.3:c.21G>A | XP_005244830.1:p.Ala7= | |
| XM_005244774.3:c.21G>A | XP_005244831.1:p.Ala7= | |
| XM_006710814.2:c.21G>A | XP_006710877.1:p.Ala7= | |
| XM_011541944.1:c.21G>A | XP_011540246.1:p.Ala7= | |
| XM_005244772.5:c.21G>A | XP_005244829.1:p.Ala7= | |
| XM_005244773.5:c.21G>A | XP_005244830.1:p.Ala7= | |
| XM_005244774.5:c.21G>A | XP_005244831.1:p.Ala7= | |
| XM_006710814.4:c.21G>A | XP_006710877.1:p.Ala7= | |
| XM_017002050.1:c.21G>A | XP_016857539.1:p.Ala7= | |
| NM_022114.4:c.21G>A MANE Select | NP_071397.3:p.Ala7= | |
| NM_199454.3:c.21G>A | NP_955533.2:p.Ala7= |