Linked Data
ClinVar Variation Id:
514247
dbSNP Id:
rs371300262
ExAC:
7:16317811 T / C
gnomAD v2:
7-16317811-T-C
gnomAD v3:
7-16278186-T-C
gnomAD v4:
7-16278186-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16278186T>C , CM000669.2:g.16278186T>C | GRCh38 |
| NC_000007.13:g.16317811T>C , CM000669.1:g.16317811T>C | GRCh37 |
| NC_000007.12:g.16284336T>C | NCBI36 |
| NG_032690.1:g.148137A>G | |
| NG_032690.2:g.148137A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.876A>G MANE Select | ENSP00000385478.2:p.Glu292= | |
| ENST00000674759.1:c.573A>G | ENSP00000502749.1:p.Glu191= | |
| ENST00000675257.1:c.468A>G | ENSP00000501664.1:p.Glu156= | |
| ENST00000676325.1:c.573A>G | ENSP00000502074.1:p.Glu191= | |
| ENST00000399310.3:c.726A>G | ENSP00000382249.3:p.Glu242= | |
| ENST00000407010.6:c.876A>G | ENSP00000385478.2:p.Glu292= | |
| ENST00000479493.1:n.87A>G | ||
| NM_001101417.3:c.726A>G | NP_001094887.1:p.Glu242= | |
| NM_001101426.3:c.876A>G | NP_001094896.1:p.Glu292= | |
| XM_006715770.2:c.627A>G | XP_006715833.1:p.Glu209= | |
| XM_011515497.1:c.876A>G | XP_011513799.1:p.Glu292= | |
| XM_011515498.1:c.876A>G | XP_011513800.1:p.Glu292= | |
| XM_011515499.1:c.876A>G | XP_011513801.1:p.Glu292= | |
| XM_011515500.1:c.771A>G | XP_011513802.1:p.Glu257= | |
| XM_011515501.1:c.876A>G | XP_011513803.1:p.Glu292= | |
| XM_011515502.1:c.573A>G | XP_011513804.1:p.Glu191= | |
| XM_011515503.1:c.573A>G | XP_011513805.1:p.Glu191= | |
| XM_011515504.1:c.573A>G | XP_011513806.1:p.Glu191= | |
| XM_011515505.1:c.573A>G | XP_011513807.1:p.Glu191= | |
| XM_011515506.1:c.573A>G | XP_011513808.1:p.Glu191= | |
| XM_011515507.1:c.573A>G | XP_011513809.1:p.Glu191= | |
| XM_011515508.1:c.573A>G | XP_011513810.1:p.Glu191= | |
| XM_011515509.1:c.573A>G | XP_011513811.1:p.Glu191= | |
| XM_006715770.3:c.627A>G | XP_006715833.1:p.Glu209= | |
| XM_011515499.2:c.876A>G | XP_011513801.1:p.Glu292= | |
| XM_011515500.2:c.771A>G | XP_011513802.1:p.Glu257= | |
| XM_011515501.2:c.876A>G | XP_011513803.1:p.Glu292= | |
| XM_011515508.2:c.573A>G | XP_011513810.1:p.Glu191= | |
| XM_011515509.2:c.573A>G | XP_011513811.1:p.Glu191= | |
| XM_017012575.1:c.876A>G | XP_016868064.1:p.Glu292= | |
| XM_017012576.1:c.876A>G | XP_016868065.1:p.Glu292= | |
| XM_017012577.1:c.240A>G | XP_016868066.1:p.Glu80= | |
| XM_017012578.1:c.240A>G | XP_016868067.1:p.Glu80= | |
| XM_024446909.1:c.573A>G | XP_024302677.1:p.Glu191= | |
| XM_024446910.1:c.573A>G | XP_024302678.1:p.Glu191= | |
| XM_024446911.1:c.468A>G | XP_024302679.1:p.Glu156= | |
| XM_024446912.1:c.627A>G | XP_024302680.1:p.Glu209= | |
| XR_001744864.1:n.981A>G | ||
| XR_001744865.1:n.989A>G | ||
| XR_001744866.1:n.1117A>G | ||
| XR_001744867.1:n.1075A>G | ||
| XR_001744868.1:n.884A>G | ||
| NM_001101426.4:c.876A>G MANE Select | NP_001094896.1:p.Glu292= | |
| NM_001101417.4:c.726A>G | NP_001094887.1:p.Glu242= | |
| NM_001368197.1:c.771A>G | NP_001355126.1:p.Glu257= | |
| NR_160656.1:n.941A>G |