Linked Data
ClinVar Variation Id:
774114
dbSNP Id:
rs199765762
ExAC:
1:245027236 T / G
gnomAD v2:
1-245027236-T-G
gnomAD v3:
1-244863934-T-G
gnomAD v4:
1-244863934-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863934T>G , CM000663.2:g.244863934T>G | GRCh38 |
| NC_000001.10:g.245027236T>G , CM000663.1:g.245027236T>G | GRCh37 |
| NC_000001.9:g.243093859T>G | NCBI36 |
| NG_042184.1:g.5592A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704074.1:c.52A>C | ||
| ENST00000283179.14:c.374A>C | ENSP00000283179.10:p.Glu125Ala | |
| ENST00000444376.7:c.374A>C | ENSP00000393151.2:p.Glu125Ala | |
| ENST00000476241.2:n.559A>C | ||
| ENST00000638475.1:c.158A>C | ENSP00000491305.1:p.Glu53Ala | |
| ENST00000638952.1:n.605A>C | ||
| ENST00000640218.2:c.374A>C MANE Select | ENSP00000491215.1:p.Glu125Ala | |
| ENST00000640306.1:c.374A>C | ENSP00000491685.1:p.Glu125Ala | |
| ENST00000640440.1:c.74A>C | ENSP00000491263.1:p.Glu25Ala | |
| ENST00000649899.1:n.598A>C | ||
| ENST00000283179.13:c.374A>C | ENSP00000283179.9:p.Glu125Ala | |
| ENST00000444376.6:c.374A>C | ENSP00000393151.2:p.Glu125Ala | |
| ENST00000476241.1:n.558A>C | ||
| NM_004501.3:c.374A>C | NP_004492.2:p.Glu125Ala | |
| NM_031844.2:c.374A>C | NP_114032.2:p.Glu125Ala | |
| NM_031844.3:c.374A>C MANE Select | NP_114032.2:p.Glu125Ala |