Linked Data
ClinVar Variation Id:
289673
dbSNP Id:
rs150811468
ExAC:
6:152469496 G / A
gnomAD v2:
6-152469496-G-A
gnomAD v3:
6-152148361-G-A
gnomAD v4:
6-152148361-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152148361G>A , CM000668.2:g.152148361G>A | GRCh38 |
| NC_000006.11:g.152469496G>A , CM000668.1:g.152469496G>A | GRCh37 |
| NC_000006.10:g.152511189G>A | NCBI36 |
| NG_012855.1:g.494039C>T | |
| NG_012855.2:g.494039C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1125C>T MANE Plus Clinical | ENSP00000346701.4:p.His375= | |
| ENST00000367255.10:c.24660C>T MANE Select | ENSP00000356224.5:p.His8220= | |
| ENST00000423061.6:c.24447C>T | ENSP00000396024.1:p.His8149= | |
| ENST00000672154.1:c.159-97C>T | ||
| ENST00000672169.1:c.395C>T | ||
| ENST00000673173.1:c.574C>T | ||
| ENST00000673451.1:c.432C>T | ENSP00000500189.1:p.His144= | |
| ENST00000341594.9:c.23445C>T | ENSP00000341887.6:p.His7815= | |
| ENST00000347037.9:n.1339C>T | ||
| ENST00000354674.4:c.1125C>T | ENSP00000346701.4:p.His375= | |
| ENST00000367251.7:c.3426C>T | ENSP00000356220.3:p.His1142= | |
| ENST00000367255.9:c.24660C>T | ENSP00000356224.5:p.His8220= | |
| ENST00000367256.9:n.8352C>T | ||
| ENST00000367257.8:c.2598C>T | ENSP00000356226.4:p.His866= | |
| ENST00000409694.6:n.8244C>T | ||
| ENST00000423061.5:c.24447C>T | ENSP00000396024.1:p.His8149= | |
| ENST00000460912.6:n.1205C>T | ||
| ENST00000472563.2:n.48C>T | ||
| ENST00000536990.5:n.1497C>T | ||
| ENST00000539504.5:c.1125C>T | ENSP00000441052.1:p.His375= | |
| NM_033071.3:c.24447C>T | NP_149062.1:p.His8149= | |
| NM_182961.3:c.24660C>T | NP_892006.3:p.His8220= | |
| XM_006715407.1:c.24696C>T | XP_006715470.1:p.His8232= | |
| XM_006715408.1:c.24684C>T | XP_006715471.1:p.His8228= | |
| XM_006715409.1:c.24675C>T | XP_006715472.1:p.His8225= | |
| XM_006715410.1:c.24696C>T | XP_006715473.1:p.His8232= | |
| XM_006715411.1:c.24645C>T | XP_006715474.1:p.His8215= | |
| XM_006715412.1:c.24681C>T | XP_006715475.1:p.His8227= | |
| XM_006715413.1:c.24696C>T | XP_006715476.1:p.His8232= | |
| XM_006715414.1:c.24624C>T | XP_006715477.1:p.His8208= | |
| XM_006715415.1:c.24696C>T | XP_006715478.1:p.His8232= | |
| XM_006715416.1:c.24681C>T | XP_006715479.1:p.His8227= | |
| XM_006715417.1:c.24555C>T | XP_006715480.1:p.His8185= | |
| XM_006715420.1:c.24543C>T | XP_006715483.1:p.His8181= | |
| XM_006715421.1:c.24540C>T | XP_006715484.1:p.His8180= | |
| XM_006715422.1:c.24537C>T | XP_006715485.1:p.His8179= | |
| XM_006715423.1:c.24696C>T | XP_006715486.1:p.His8232= | |
| XM_006715424.1:c.24696C>T | XP_006715487.1:p.His8232= | |
| XM_006715425.1:c.24696C>T | XP_006715488.1:p.His8232= | |
| XM_011535641.1:c.24693C>T | XP_011533943.1:p.His8231= | |
| XM_011535642.1:c.24681C>T | XP_011533944.1:p.His8227= | |
| XM_011535643.1:c.24531C>T | XP_011533945.1:p.His8177= | |
| XM_011535644.1:c.22971C>T | XP_011533946.1:p.His7657= | |
| XM_011535645.1:c.22464C>T | XP_011533947.1:p.His7488= | |
| XM_011535647.1:c.17931C>T | XP_011533949.1:p.His5977= | |
| NM_001347701.1:c.1266C>T | NP_001334630.1:p.His422= | |
| NM_001347702.1:c.1125C>T | NP_001334631.1:p.His375= | |
| XM_006715408.2:c.24684C>T | XP_006715471.1:p.His8228= | |
| XM_006715410.2:c.24696C>T | XP_006715473.1:p.His8232= | |
| XM_006715412.2:c.24681C>T | XP_006715475.1:p.His8227= | |
| XM_006715413.2:c.24696C>T | XP_006715476.1:p.His8232= | |
| XM_006715415.2:c.24696C>T | XP_006715478.1:p.His8232= | |
| XM_006715416.2:c.24681C>T | XP_006715479.1:p.His8227= | |
| XM_006715417.2:c.24555C>T | XP_006715480.1:p.His8185= | |
| XM_006715420.2:c.24543C>T | XP_006715483.1:p.His8181= | |
| XM_006715421.2:c.24540C>T | XP_006715484.1:p.His8180= | |
| XM_006715423.2:c.24696C>T | XP_006715486.1:p.His8232= | |
| XM_006715424.2:c.24696C>T | XP_006715487.1:p.His8232= | |
| XM_006715425.2:c.24696C>T | XP_006715488.1:p.His8232= | |
| XM_011535641.2:c.24693C>T | XP_011533943.1:p.His8231= | |
| XM_011535642.2:c.24681C>T | XP_011533944.1:p.His8227= | |
| XM_011535645.2:c.22464C>T | XP_011533947.1:p.His7488= | |
| XM_017010608.1:c.24696C>T | XP_016866097.1:p.His8232= | |
| XM_017010609.1:c.24696C>T | XP_016866098.1:p.His8232= | |
| XM_017010610.1:c.24675C>T | XP_016866099.1:p.His8225= | |
| XM_017010611.2:c.24669C>T | XP_016866100.1:p.His8223= | |
| XM_017010612.1:c.24618C>T | XP_016866101.1:p.His8206= | |
| XM_017010613.1:c.24693C>T | XP_016866102.1:p.His8231= | |
| XM_017010614.1:c.24540C>T | XP_016866103.1:p.His8180= | |
| XM_017010615.1:c.24540C>T | XP_016866104.1:p.His8180= | |
| XM_017010616.1:c.24696C>T | XP_016866105.1:p.His8232= | |
| XM_017010617.1:c.24693C>T | XP_016866106.1:p.His8231= | |
| XM_017010618.1:c.24681C>T | XP_016866107.1:p.His8227= | |
| XM_017010619.1:c.22971C>T | XP_016866108.1:p.His7657= | |
| NM_182961.4:c.24660C>T MANE Select | NP_892006.3:p.His8220= | |
| NM_001347701.2:c.1266C>T | NP_001334630.1:p.His422= | |
| NM_001347702.2:c.1125C>T MANE Plus Clinical | NP_001334631.1:p.His375= | |
| NM_033071.5:c.24447C>T | NP_149062.2:p.His8149= |