Linked Data
ClinVar Variation Id:
227857
dbSNP Id:
rs187194973
ExAC:
1:3102751 G / A
gnomAD v2:
1-3102751-G-A
gnomAD v3:
1-3186187-G-A
gnomAD v4:
1-3186187-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3186187G>A , CM000663.2:g.3186187G>A | GRCh38 |
| NC_000001.10:g.3102751G>A , CM000663.1:g.3102751G>A | GRCh37 |
| NC_000001.9:g.3092611G>A | NCBI36 |
| NG_029576.1:g.122010G>A | |
| NG_029576.2:g.122010G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270722.10:c.100G>A MANE Select | ENSP00000270722.5:p.Ala34Thr | |
| ENST00000270722.9:c.100G>A | ENSP00000270722.5:p.Ala34Thr | |
| ENST00000378391.6:c.100G>A | ENSP00000367643.2:p.Ala34Thr | |
| ENST00000511072.5:c.100G>A | ENSP00000426975.1:p.Ala34Thr | |
| ENST00000514189.5:c.100G>A | ENSP00000421400.1:p.Ala34Thr | |
| ENST00000607632.1:n.177G>A | ||
| NM_022114.3:c.100G>A | NP_071397.3:p.Ala34Thr | |
| NM_199454.2:c.100G>A | NP_955533.2:p.Ala34Thr | |
| XM_005244772.3:c.100G>A | XP_005244829.1:p.Ala34Thr | |
| XM_005244773.3:c.100G>A | XP_005244830.1:p.Ala34Thr | |
| XM_005244774.3:c.100G>A | XP_005244831.1:p.Ala34Thr | |
| XM_006710814.2:c.100G>A | XP_006710877.1:p.Ala34Thr | |
| XM_011541944.1:c.100G>A | XP_011540246.1:p.Ala34Thr | |
| XM_005244772.5:c.100G>A | XP_005244829.1:p.Ala34Thr | |
| XM_005244773.5:c.100G>A | XP_005244830.1:p.Ala34Thr | |
| XM_005244774.5:c.100G>A | XP_005244831.1:p.Ala34Thr | |
| XM_006710814.4:c.100G>A | XP_006710877.1:p.Ala34Thr | |
| XM_017002050.1:c.100G>A | XP_016857539.1:p.Ala34Thr | |
| NM_022114.4:c.100G>A MANE Select | NP_071397.3:p.Ala34Thr | |
| NM_199454.3:c.100G>A | NP_955533.2:p.Ala34Thr |