Linked Data
ClinVar Variation Id:
206644
dbSNP Id:
rs755565099
ExAC:
1:40557067 C / T
gnomAD v2:
1-40557067-C-T
gnomAD v4:
1-40091395-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40091395C>T , CM000663.2:g.40091395C>T | GRCh38 |
| NC_000001.10:g.40557067C>T , CM000663.1:g.40557067C>T | GRCh37 |
| NC_000001.9:g.40329654C>T | NCBI36 |
| NG_009192.1:g.11076G>A , LRG_690:g.11076G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*203G>A | ENSP00000361865.5:n.*203G>A | |
| ENST00000433473.8:c.364G>A | ENSP00000394863.4:p.Ala122Thr | |
| ENST00000439754.6:c.367G>A | ENSP00000403207.2:p.Ala123Thr | |
| ENST00000449045.7:c.125-1883G>A | ENSP00000392293.2:n.125-1883G>A | |
| ENST00000526547.2:c.647G>A | ||
| ENST00000527311.7:c.239G>A | ENSP00000436695.3:p.Gly80Asp | |
| ENST00000530704.6:c.367G>A | ENSP00000431655.1:p.Ala123Thr | |
| ENST00000641083.1:c.345G>A | ||
| ENST00000641236.1:n.604G>A | ||
| ENST00000641319.1:c.367G>A | ENSP00000493128.1:p.Ala123Thr | |
| ENST00000641471.1:c.454G>A | ENSP00000493146.1:p.Ala152Thr | |
| ENST00000641548.1:c.*219G>A | ENSP00000492984.1:n.*219G>A | |
| ENST00000641691.1:c.*219G>A | ENSP00000492910.1:n.*219G>A | |
| ENST00000641924.1:c.124+5720G>A | ENSP00000493063.1:n.124+5720G>A | |
| ENST00000642050.2:c.367G>A MANE Select | ENSP00000493153.1:p.Ala123Thr | |
| ENST00000372779.8:c.454G>A | ENSP00000361865.4:p.Ala152Thr | |
| ENST00000433473.7:c.367G>A | ENSP00000394863.3:p.Ala123Thr | |
| ENST00000439754.5:c.52G>A | ENSP00000403207.1:p.Ala18Thr | |
| ENST00000449045.6:c.125-1883G>A | ENSP00000392293.2:n.125-1883G>A | |
| ENST00000526547.1:c.217G>A | ENSP00000436481.1:p.Ala73Thr | |
| ENST00000527311.6:c.142G>A | ENSP00000436695.2:p.Ala48Thr | |
| ENST00000529905.5:c.367G>A | ENSP00000432053.1:p.Ala123Thr | |
| ENST00000530704.5:c.367G>A | ENSP00000431655.1:p.Ala123Thr | |
| NM_000310.3:c.367G>A , LRG_690t1:c.367G>A | NP_000301.1:p.Ala123Thr | |
| NM_001142604.1:c.125-1883G>A | NP_001136076.1:n.125-1883G>A | |
| XM_005271008.1:c.367G>A | XP_005271065.1:p.Ala123Thr | |
| NM_001363695.1:c.367G>A | NP_001350624.1:p.Ala123Thr | |
| NM_000310.4:c.367G>A MANE Select | NP_000301.1:p.Ala123Thr | |
| NM_001142604.2:c.125-1883G>A | NP_001136076.1:n.125-1883G>A | |
| NM_001363695.2:c.367G>A | NP_001350624.1:p.Ala123Thr |