Linked Data
ClinVar Variation Id:
4435
dbSNP Id:
rs121908130
gnomAD v4:
15-77031225-G-A
PubMed:
PMID:11971877
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77031225G>A , CM000677.2:g.77031225G>A | GRCh38 |
| NC_000015.9:g.77323566G>A , CM000677.1:g.77323566G>A | GRCh37 |
| NC_000015.8:g.75110621G>A | NCBI36 |
| NG_007526.1:g.41102G>A , LRG_172:g.41102G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697622.1:n.368G>A | ||
| ENST00000697623.1:n.1088G>A | ||
| ENST00000558012.6:c.688G>A MANE Select | ENSP00000452746.1:p.Ala230Thr | |
| ENST00000379595.7:c.688G>A | ENSP00000368914.3:p.Ala230Thr | |
| ENST00000557995.1:n.352G>A | ||
| ENST00000558012.5:c.688G>A | ENSP00000452746.1:p.Ala230Thr | |
| ENST00000559295.5:c.688G>A | ENSP00000452743.1:p.Ala230Thr | |
| ENST00000559750.5:c.*329G>A | ENSP00000453531.1:n.*329G>A | |
| ENST00000559785.5:c.883G>A | ENSP00000452986.1:p.Ala295Thr | |
| ENST00000559856.1:c.607G>A | ENSP00000453382.1:p.Ala203Thr | |
| ENST00000560223.5:c.*790G>A | ENSP00000454118.1:n.*790G>A | |
| ENST00000560377.5:n.929G>A | ||
| ENST00000561315.5:n.461G>A | ||
| NM_003978.3:c.688G>A , LRG_172t1:c.688G>A | NP_003969.2:p.Ala230Thr | |
| XM_006720737.2:c.322G>A | XP_006720800.1:p.Ala108Thr | |
| XM_011522163.1:c.745G>A | XP_011520465.1:p.Ala249Thr | |
| XM_011522164.1:c.643G>A | XP_011520466.1:p.Ala215Thr | |
| XM_011522165.1:c.541G>A | XP_011520467.1:p.Ala181Thr | |
| XM_011522166.1:c.745G>A | XP_011520468.1:p.Ala249Thr | |
| XM_011522167.1:c.745G>A | XP_011520469.1:p.Ala249Thr | |
| XM_011522168.1:c.745G>A | XP_011520470.1:p.Ala249Thr | |
| XM_011522169.1:c.745G>A | XP_011520471.1:p.Ala249Thr | |
| XM_011522170.1:c.371+1651G>A | XP_011520472.1:n.371+1651G>A | |
| XM_011522171.1:c.311+1651G>A | XP_011520473.1:n.311+1651G>A | |
| XM_011522172.1:c.311+1651G>A | XP_011520474.1:n.311+1651G>A | |
| XM_011522173.1:c.311+1651G>A | XP_011520475.1:n.311+1651G>A | |
| XR_931936.1:n.1195G>A | ||
| XR_931937.1:n.1138G>A | ||
| XR_931938.1:n.1195G>A | ||
| XR_931939.1:n.1195G>A | ||
| XR_931940.1:n.1069+1651G>A | ||
| NM_001321135.1:c.688G>A | NP_001308064.1:p.Ala230Thr | |
| NM_001321136.1:c.661G>A | NP_001308065.1:p.Ala221Thr | |
| NM_001321137.1:c.883G>A | NP_001308066.1:p.Ala295Thr | |
| NM_003978.4:c.688G>A | NP_003969.2:p.Ala230Thr | |
| NR_135552.1:n.1097G>A | ||
| XM_006720737.3:c.322G>A | XP_006720800.1:p.Ala108Thr | |
| XM_011522163.2:c.745G>A | XP_011520465.1:p.Ala249Thr | |
| XM_011522165.2:c.541G>A | XP_011520467.1:p.Ala181Thr | |
| XM_011522166.2:c.745G>A | XP_011520468.1:p.Ala249Thr | |
| XM_011522167.2:c.745G>A | XP_011520469.1:p.Ala249Thr | |
| XM_011522168.3:c.745G>A | XP_011520470.1:p.Ala249Thr | |
| XM_011522169.2:c.745G>A | XP_011520471.1:p.Ala249Thr | |
| XR_931936.2:n.1193G>A | ||
| XR_931937.2:n.1136G>A | ||
| XR_931938.2:n.1193G>A | ||
| XR_931939.2:n.1193G>A | ||
| NM_001321135.2:c.688G>A | NP_001308064.1:p.Ala230Thr | |
| NM_001321136.2:c.661G>A | NP_001308065.1:p.Ala221Thr | |
| NM_003978.5:c.688G>A MANE Select | NP_003969.2:p.Ala230Thr | |
| NR_135552.2:n.1056G>A |