Linked Data
ClinVar Variation Id:
282846
dbSNP Id:
rs370627877
ExAC:
7:16415758 G / A
gnomAD v2:
7-16415758-G-A
gnomAD v3:
7-16376133-G-A
gnomAD v4:
7-16376133-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16376133G>A , CM000669.2:g.16376133G>A | GRCh38 |
| NC_000007.13:g.16415758G>A , CM000669.1:g.16415758G>A | GRCh37 |
| NC_000007.12:g.16382283G>A | NCBI36 |
| NG_032690.1:g.50190C>T | |
| NG_032690.2:g.50190C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.643C>T MANE Select | ENSP00000385478.2:p.Gln215Ter | |
| ENST00000674759.1:c.340C>T | ENSP00000502749.1:p.Gln114Ter | |
| ENST00000675257.1:c.340C>T | ENSP00000501664.1:p.Gln114Ter | |
| ENST00000676325.1:c.340C>T | ENSP00000502074.1:p.Gln114Ter | |
| ENST00000399310.3:c.534+29928C>T | ENSP00000382249.3:n.534+29928C>T | |
| ENST00000407010.6:c.643C>T | ENSP00000385478.2:p.Gln215Ter | |
| NM_001101417.3:c.534+29928C>T | NP_001094887.1:n.534+29928C>T | |
| NM_001101426.3:c.643C>T | NP_001094896.1:p.Gln215Ter | |
| XM_006715770.2:c.394C>T | XP_006715833.1:p.Gln132Ter | |
| XM_011515497.1:c.643C>T | XP_011513799.1:p.Gln215Ter | |
| XM_011515498.1:c.643C>T | XP_011513800.1:p.Gln215Ter | |
| XM_011515499.1:c.643C>T | XP_011513801.1:p.Gln215Ter | |
| XM_011515500.1:c.643C>T | XP_011513802.1:p.Gln215Ter | |
| XM_011515501.1:c.643C>T | XP_011513803.1:p.Gln215Ter | |
| XM_011515502.1:c.340C>T | XP_011513804.1:p.Gln114Ter | |
| XM_011515503.1:c.340C>T | XP_011513805.1:p.Gln114Ter | |
| XM_011515504.1:c.340C>T | XP_011513806.1:p.Gln114Ter | |
| XM_011515505.1:c.340C>T | XP_011513807.1:p.Gln114Ter | |
| XM_011515506.1:c.340C>T | XP_011513808.1:p.Gln114Ter | |
| XM_011515507.1:c.340C>T | XP_011513809.1:p.Gln114Ter | |
| XM_011515508.1:c.340C>T | XP_011513810.1:p.Gln114Ter | |
| XM_011515509.1:c.340C>T | XP_011513811.1:p.Gln114Ter | |
| XM_011515510.1:c.643C>T | XP_011513812.1:p.Gln215Ter | |
| XM_011515511.1:c.643C>T | XP_011513813.1:p.Gln215Ter | |
| XM_006715770.3:c.394C>T | XP_006715833.1:p.Gln132Ter | |
| XM_011515499.2:c.643C>T | XP_011513801.1:p.Gln215Ter | |
| XM_011515500.2:c.643C>T | XP_011513802.1:p.Gln215Ter | |
| XM_011515501.2:c.643C>T | XP_011513803.1:p.Gln215Ter | |
| XM_011515508.2:c.340C>T | XP_011513810.1:p.Gln114Ter | |
| XM_011515509.2:c.340C>T | XP_011513811.1:p.Gln114Ter | |
| XM_017012575.1:c.643C>T | XP_016868064.1:p.Gln215Ter | |
| XM_017012576.1:c.643C>T | XP_016868065.1:p.Gln215Ter | |
| XM_017012577.1:c.7C>T | XP_016868066.1:p.Gln3Ter | |
| XM_024446909.1:c.340C>T | XP_024302677.1:p.Gln114Ter | |
| XM_024446910.1:c.340C>T | XP_024302678.1:p.Gln114Ter | |
| XM_024446911.1:c.340C>T | XP_024302679.1:p.Gln114Ter | |
| XM_024446912.1:c.394C>T | XP_024302680.1:p.Gln132Ter | |
| XR_001744864.1:n.794C>T | ||
| XR_001744865.1:n.802C>T | ||
| XR_001744866.1:n.822C>T | ||
| XR_001744867.1:n.826C>T | ||
| XR_001744868.1:n.802C>T | ||
| NM_001101426.4:c.643C>T MANE Select | NP_001094896.1:p.Gln215Ter | |
| NM_001101417.4:c.534+29928C>T | NP_001094887.1:n.534+29928C>T | |
| NM_001368197.1:c.643C>T | NP_001355126.1:p.Gln215Ter | |
| NR_160656.1:n.859C>T |