Linked Data
ClinVar Variation Id:
391253
dbSNP Id:
rs532977695
ExAC:
1:213031927 G / A
gnomAD v2:
1-213031927-G-A
gnomAD v3:
1-212858585-G-A
gnomAD v4:
1-212858585-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212858585G>A , CM000663.2:g.212858585G>A | GRCh38 |
| NC_000001.10:g.213031927G>A , CM000663.1:g.213031927G>A | GRCh37 |
| NC_000001.9:g.211098550G>A | NCBI36 |
| NG_028131.1:g.5331G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.133G>A MANE Select | ENSP00000355938.4:p.Gly45Ser | |
| ENST00000366971.8:c.133G>A | ENSP00000355938.4:p.Gly45Ser | |
| NM_014053.3:c.133G>A | NP_054772.1:p.Gly45Ser | |
| XM_011509446.1:c.133G>A | XP_011507748.1:p.Gly45Ser | |
| XM_011509447.1:c.133G>A | XP_011507749.1:p.Gly45Ser | |
| XM_011509448.1:c.133G>A | XP_011507750.1:p.Gly45Ser | |
| XR_247024.1:n.307G>A | ||
| XR_426771.1:n.307G>A | ||
| XR_426772.2:n.307G>A | ||
| XR_921769.1:n.307G>A | ||
| XM_011509446.3:c.133G>A | XP_011507748.1:p.Gly45Ser | |
| XM_011509447.2:c.133G>A | XP_011507749.1:p.Gly45Ser | |
| XR_247024.3:n.307G>A | ||
| XR_426772.3:n.307G>A | ||
| NM_014053.4:c.133G>A MANE Select | NP_054772.1:p.Gly45Ser |