Linked Data
ClinVar Variation Id:
46280
dbSNP Id:
rs202106463
ExAC:
5:90106685 A / G
gnomAD v2:
5-90106685-A-G
gnomAD v3:
5-90810868-A-G
gnomAD v4:
5-90810868-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90810868A>G , CM000667.2:g.90810868A>G | GRCh38 |
| NC_000005.9:g.90106685A>G , CM000667.1:g.90106685A>G | GRCh37 |
| NC_000005.8:g.90142441A>G | NCBI36 |
| NG_007083.1:g.257069A>G | |
| NG_007083.2:g.286525A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.15608A>G MANE Select | ENSP00000384582.2:p.Glu5203Gly | |
| ENST00000425867.3:c.4562A>G | ENSP00000392618.3:p.Glu1521Gly | |
| ENST00000638510.1:n.2875A>G | ||
| ENST00000639431.1:c.265+134659A>G | ENSP00000491057.1:n.265+134659A>G | |
| ENST00000640407.1:c.2018A>G | ENSP00000491425.1:p.Glu673Gly | |
| ENST00000405460.6:c.15608A>G | ENSP00000384582.2:p.Glu5203Gly | |
| ENST00000425867.2:c.2591A>G | ENSP00000392618.2:p.Glu864Gly | |
| NM_032119.3:c.15608A>G | NP_115495.3:p.Glu5203Gly | |
| NR_003149.1:n.15621A>G | ||
| XM_011543675.1:c.15605A>G | XP_011541977.1:p.Glu5202Gly | |
| XM_011543676.1:c.15527A>G | XP_011541978.1:p.Glu5176Gly | |
| XM_011543677.1:c.12911A>G | XP_011541979.1:p.Glu4304Gly | |
| NM_032119.4:c.15608A>G MANE Select | NP_115495.3:p.Glu5203Gly | |
| XM_017009963.2:c.15629A>G | XP_016865452.1:p.Glu5210Gly | |
| XM_017009964.2:c.15626A>G | XP_016865453.1:p.Glu5209Gly | |
| XM_017009965.1:c.15626A>G | XP_016865454.1:p.Glu5209Gly | |
| XM_017009966.2:c.15548A>G | XP_016865455.1:p.Glu5183Gly | |
| XM_017009967.1:c.15533A>G | XP_016865456.1:p.Glu5178Gly | |
| XM_017009968.2:c.15449A>G | XP_016865457.1:p.Glu5150Gly | |
| XM_017009969.2:c.15629A>G | XP_016865458.1:p.Glu5210Gly | |
| XM_017009972.1:c.8747A>G | XP_016865461.1:p.Glu2916Gly | |
| XM_017009973.1:c.8726A>G | XP_016865462.1:p.Glu2909Gly | |
| NR_003149.2:n.15624A>G |