Linked Data
ClinVar Variation Id:
420050
dbSNP Id:
rs1064794257
gnomAD v2:
4-6293068-A-G
gnomAD v4:
4-6291341-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291341A>G , CM000666.2:g.6291341A>G | GRCh38 |
| NC_000004.11:g.6293068A>G , CM000666.1:g.6293068A>G | GRCh37 |
| NC_000004.10:g.6343969A>G | NCBI36 |
| NG_011700.1:g.26492A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.605A>G | ENSP00000507852.1:p.Glu202Gly | |
| ENST00000683395.1:c.595A>G | ||
| ENST00000684087.1:c.605A>G | ENSP00000506978.1:p.Glu202Gly | |
| ENST00000684700.1:c.605A>G | ENSP00000507806.1:p.Glu202Gly | |
| ENST00000506362.2:c.356A>G | ENSP00000424103.2:p.Glu119Gly | |
| ENST00000673642.1:c.404A>G | ENSP00000501242.1:p.Glu135Gly | |
| ENST00000673991.1:c.605A>G | ENSP00000501033.1:p.Glu202Gly | |
| ENST00000226760.5:c.605A>G MANE Select | ENSP00000226760.1:p.Glu202Gly | |
| ENST00000503569.5:c.605A>G | ENSP00000423337.1:p.Glu202Gly | |
| ENST00000506362.1:c.202A>G | ||
| ENST00000507765.1:n.790A>G | ||
| NM_001145853.1:c.605A>G | NP_001139325.1:p.Glu202Gly | |
| NM_006005.3:c.605A>G MANE Select | NP_005996.2:p.Glu202Gly | |
| XM_017008586.1:c.614A>G | XP_016864075.1:p.Glu205Gly |