Linked Data
ClinVar Variation Id:
283940
dbSNP Id:
rs202207154
ExAC:
6:152469295 G / A
gnomAD v2:
6-152469295-G-A
gnomAD v3:
6-152148160-G-A
gnomAD v4:
6-152148160-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152148160G>A , CM000668.2:g.152148160G>A | GRCh38 |
| NC_000006.11:g.152469295G>A , CM000668.1:g.152469295G>A | GRCh37 |
| NC_000006.10:g.152510988G>A | NCBI36 |
| NG_012855.1:g.494240C>T | |
| NG_012855.2:g.494240C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1326C>T MANE Plus Clinical | ENSP00000346701.4:p.His442= | |
| ENST00000367255.10:c.24861C>T MANE Select | ENSP00000356224.5:p.His8287= | |
| ENST00000423061.6:c.24648C>T | ENSP00000396024.1:p.His8216= | |
| ENST00000672154.1:c.263C>T | ||
| ENST00000672169.1:c.596C>T | ||
| ENST00000673173.1:c.775C>T | ||
| ENST00000673451.1:c.633C>T | ENSP00000500189.1:p.His211= | |
| ENST00000341594.9:c.23646C>T | ENSP00000341887.6:p.His7882= | |
| ENST00000347037.9:n.1540C>T | ||
| ENST00000354674.4:c.1326C>T | ENSP00000346701.4:p.His442= | |
| ENST00000367251.7:c.3627C>T | ENSP00000356220.3:p.His1209= | |
| ENST00000367255.9:c.24861C>T | ENSP00000356224.5:p.His8287= | |
| ENST00000367256.9:n.8553C>T | ||
| ENST00000367257.8:c.2799C>T | ENSP00000356226.4:p.His933= | |
| ENST00000409694.6:n.8445C>T | ||
| ENST00000423061.5:c.24648C>T | ENSP00000396024.1:p.His8216= | |
| ENST00000460912.6:n.1406C>T | ||
| ENST00000472563.2:n.249C>T | ||
| ENST00000536990.5:n.1698C>T | ||
| ENST00000539504.5:c.1326C>T | ENSP00000441052.1:p.His442= | |
| NM_033071.3:c.24648C>T | NP_149062.1:p.His8216= | |
| NM_182961.3:c.24861C>T | NP_892006.3:p.His8287= | |
| XM_006715407.1:c.24897C>T | XP_006715470.1:p.His8299= | |
| XM_006715408.1:c.24885C>T | XP_006715471.1:p.His8295= | |
| XM_006715409.1:c.24876C>T | XP_006715472.1:p.His8292= | |
| XM_006715410.1:c.24897C>T | XP_006715473.1:p.His8299= | |
| XM_006715411.1:c.24846C>T | XP_006715474.1:p.His8282= | |
| XM_006715412.1:c.24882C>T | XP_006715475.1:p.His8294= | |
| XM_006715413.1:c.24897C>T | XP_006715476.1:p.His8299= | |
| XM_006715414.1:c.24825C>T | XP_006715477.1:p.His8275= | |
| XM_006715415.1:c.24897C>T | XP_006715478.1:p.His8299= | |
| XM_006715416.1:c.24882C>T | XP_006715479.1:p.His8294= | |
| XM_006715417.1:c.24756C>T | XP_006715480.1:p.His8252= | |
| XM_006715420.1:c.24744C>T | XP_006715483.1:p.His8248= | |
| XM_006715421.1:c.24741C>T | XP_006715484.1:p.His8247= | |
| XM_006715422.1:c.24738C>T | XP_006715485.1:p.His8246= | |
| XM_006715423.1:c.24897C>T | XP_006715486.1:p.His8299= | |
| XM_006715424.1:c.24897C>T | XP_006715487.1:p.His8299= | |
| XM_006715425.1:c.24897C>T | XP_006715488.1:p.His8299= | |
| XM_011535641.1:c.24894C>T | XP_011533943.1:p.His8298= | |
| XM_011535642.1:c.24882C>T | XP_011533944.1:p.His8294= | |
| XM_011535643.1:c.24732C>T | XP_011533945.1:p.His8244= | |
| XM_011535644.1:c.23172C>T | XP_011533946.1:p.His7724= | |
| XM_011535645.1:c.22665C>T | XP_011533947.1:p.His7555= | |
| XM_011535647.1:c.18132C>T | XP_011533949.1:p.His6044= | |
| NM_001347701.1:c.1467C>T | NP_001334630.1:p.His489= | |
| NM_001347702.1:c.1326C>T | NP_001334631.1:p.His442= | |
| XM_006715408.2:c.24885C>T | XP_006715471.1:p.His8295= | |
| XM_006715410.2:c.24897C>T | XP_006715473.1:p.His8299= | |
| XM_006715412.2:c.24882C>T | XP_006715475.1:p.His8294= | |
| XM_006715413.2:c.24897C>T | XP_006715476.1:p.His8299= | |
| XM_006715415.2:c.24897C>T | XP_006715478.1:p.His8299= | |
| XM_006715416.2:c.24882C>T | XP_006715479.1:p.His8294= | |
| XM_006715417.2:c.24756C>T | XP_006715480.1:p.His8252= | |
| XM_006715420.2:c.24744C>T | XP_006715483.1:p.His8248= | |
| XM_006715421.2:c.24741C>T | XP_006715484.1:p.His8247= | |
| XM_006715423.2:c.24897C>T | XP_006715486.1:p.His8299= | |
| XM_006715424.2:c.24897C>T | XP_006715487.1:p.His8299= | |
| XM_006715425.2:c.24897C>T | XP_006715488.1:p.His8299= | |
| XM_011535641.2:c.24894C>T | XP_011533943.1:p.His8298= | |
| XM_011535642.2:c.24882C>T | XP_011533944.1:p.His8294= | |
| XM_011535645.2:c.22665C>T | XP_011533947.1:p.His7555= | |
| XM_017010608.1:c.24897C>T | XP_016866097.1:p.His8299= | |
| XM_017010609.1:c.24897C>T | XP_016866098.1:p.His8299= | |
| XM_017010610.1:c.24876C>T | XP_016866099.1:p.His8292= | |
| XM_017010611.2:c.24870C>T | XP_016866100.1:p.His8290= | |
| XM_017010612.1:c.24819C>T | XP_016866101.1:p.His8273= | |
| XM_017010613.1:c.24894C>T | XP_016866102.1:p.His8298= | |
| XM_017010614.1:c.24741C>T | XP_016866103.1:p.His8247= | |
| XM_017010615.1:c.24741C>T | XP_016866104.1:p.His8247= | |
| XM_017010616.1:c.24897C>T | XP_016866105.1:p.His8299= | |
| XM_017010617.1:c.24894C>T | XP_016866106.1:p.His8298= | |
| XM_017010618.1:c.24882C>T | XP_016866107.1:p.His8294= | |
| XM_017010619.1:c.23172C>T | XP_016866108.1:p.His7724= | |
| NM_182961.4:c.24861C>T MANE Select | NP_892006.3:p.His8287= | |
| NM_001347701.2:c.1467C>T | NP_001334630.1:p.His489= | |
| NM_001347702.2:c.1326C>T MANE Plus Clinical | NP_001334631.1:p.His442= | |
| NM_033071.5:c.24648C>T | NP_149062.2:p.His8216= |