Linked Data
ClinVar Variation Id:
514025
dbSNP Id:
rs370143116
ExAC:
6:152466618 C / T
gnomAD v2:
6-152466618-C-T
gnomAD v3:
6-152145483-C-T
gnomAD v4:
6-152145483-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152145483C>T , CM000668.2:g.152145483C>T | GRCh38 |
| NC_000006.11:g.152466618C>T , CM000668.1:g.152466618C>T | GRCh37 |
| NC_000006.10:g.152508311C>T | NCBI36 |
| NG_012855.1:g.496917G>A | |
| NG_012855.2:g.496917G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1510+4G>A MANE Plus Clinical | ENSP00000346701.4:n.1510+4G>A | |
| ENST00000367255.10:c.24977-1718G>A MANE Select | ENSP00000356224.5:n.24977-1718G>A | |
| ENST00000423061.6:c.24832+4G>A | ENSP00000396024.1:n.24832+4G>A | |
| ENST00000672154.1:c.379-1718G>A | ||
| ENST00000672169.1:c.712-1718G>A | ||
| ENST00000673173.1:c.890+2562G>A | ||
| ENST00000673451.1:c.749-1718G>A | ENSP00000500189.1:n.749-1718G>A | |
| ENST00000341594.9:c.23762-1718G>A | ENSP00000341887.6:n.23762-1718G>A | |
| ENST00000347037.9:n.1724+4G>A | ||
| ENST00000354674.4:c.1510+4G>A | ENSP00000346701.4:n.1510+4G>A | |
| ENST00000367251.7:c.3811+4G>A | ENSP00000356220.3:n.3811+4G>A | |
| ENST00000367255.9:c.24977-1718G>A | ENSP00000356224.5:n.24977-1718G>A | |
| ENST00000367256.9:n.8669-1718G>A | ||
| ENST00000367257.8:c.2915-1718G>A | ENSP00000356226.4:n.2915-1718G>A | |
| ENST00000409694.6:n.8561-1718G>A | ||
| ENST00000423061.5:c.24832+4G>A | ENSP00000396024.1:n.24832+4G>A | |
| ENST00000460912.6:n.1590+4G>A | ||
| ENST00000478916.5:n.2281G>A | ||
| ENST00000536990.5:n.1814-1718G>A | ||
| ENST00000539504.5:c.1442-1718G>A | ENSP00000441052.1:n.1442-1718G>A | |
| NM_033071.3:c.24832+4G>A | NP_149062.1:n.24832+4G>A | |
| NM_182961.3:c.24977-1718G>A | NP_892006.3:n.24977-1718G>A | |
| XM_006715407.1:c.25081+4G>A | XP_006715470.1:n.25081+4G>A | |
| XM_006715408.1:c.25069+4G>A | XP_006715471.1:n.25069+4G>A | |
| XM_006715409.1:c.25060+4G>A | XP_006715472.1:n.25060+4G>A | |
| XM_006715410.1:c.25081+4G>A | XP_006715473.1:n.25081+4G>A | |
| XM_006715411.1:c.25030+4G>A | XP_006715474.1:n.25030+4G>A | |
| XM_006715412.1:c.25066+4G>A | XP_006715475.1:n.25066+4G>A | |
| XM_006715413.1:c.25013-1718G>A | XP_006715476.1:n.25013-1718G>A | |
| XM_006715414.1:c.25009+4G>A | XP_006715477.1:n.25009+4G>A | |
| XM_006715415.1:c.25013-1718G>A | XP_006715478.1:n.25013-1718G>A | |
| XM_006715416.1:c.24998-1718G>A | XP_006715479.1:n.24998-1718G>A | |
| XM_006715417.1:c.24940+4G>A | XP_006715480.1:n.24940+4G>A | |
| XM_006715420.1:c.24928+4G>A | XP_006715483.1:n.24928+4G>A | |
| XM_006715421.1:c.24925+4G>A | XP_006715484.1:n.24925+4G>A | |
| XM_006715422.1:c.24922+4G>A | XP_006715485.1:n.24922+4G>A | |
| XM_006715423.1:c.25081+4G>A | XP_006715486.1:n.25081+4G>A | |
| XM_006715424.1:c.25081+4G>A | XP_006715487.1:n.25081+4G>A | |
| XM_006715425.1:c.25013-1718G>A | XP_006715488.1:n.25013-1718G>A | |
| XM_011535641.1:c.25078+4G>A | XP_011533943.1:n.25078+4G>A | |
| XM_011535642.1:c.25066+4G>A | XP_011533944.1:n.25066+4G>A | |
| XM_011535643.1:c.24916+4G>A | XP_011533945.1:n.24916+4G>A | |
| XM_011535644.1:c.23356+4G>A | XP_011533946.1:n.23356+4G>A | |
| XM_011535645.1:c.22849+4G>A | XP_011533947.1:n.22849+4G>A | |
| XM_011535647.1:c.18316+4G>A | XP_011533949.1:n.18316+4G>A | |
| NM_001347701.1:c.1583-1718G>A | NP_001334630.1:n.1583-1718G>A | |
| NM_001347702.1:c.1510+4G>A | NP_001334631.1:n.1510+4G>A | |
| XM_006715408.2:c.25069+4G>A | XP_006715471.1:n.25069+4G>A | |
| XM_006715410.2:c.25081+4G>A | XP_006715473.1:n.25081+4G>A | |
| XM_006715412.2:c.25066+4G>A | XP_006715475.1:n.25066+4G>A | |
| XM_006715413.2:c.25013-1718G>A | XP_006715476.1:n.25013-1718G>A | |
| XM_006715415.2:c.25013-1718G>A | XP_006715478.1:n.25013-1718G>A | |
| XM_006715416.2:c.24998-1718G>A | XP_006715479.1:n.24998-1718G>A | |
| XM_006715417.2:c.24940+4G>A | XP_006715480.1:n.24940+4G>A | |
| XM_006715420.2:c.24928+4G>A | XP_006715483.1:n.24928+4G>A | |
| XM_006715421.2:c.24925+4G>A | XP_006715484.1:n.24925+4G>A | |
| XM_006715423.2:c.25081+4G>A | XP_006715486.1:n.25081+4G>A | |
| XM_006715424.2:c.25081+4G>A | XP_006715487.1:n.25081+4G>A | |
| XM_006715425.2:c.25013-1718G>A | XP_006715488.1:n.25013-1718G>A | |
| XM_011535641.2:c.25078+4G>A | XP_011533943.1:n.25078+4G>A | |
| XM_011535642.2:c.25066+4G>A | XP_011533944.1:n.25066+4G>A | |
| XM_011535645.2:c.22849+4G>A | XP_011533947.1:n.22849+4G>A | |
| XM_017010608.1:c.25081+4G>A | XP_016866097.1:n.25081+4G>A | |
| XM_017010609.1:c.25081+4G>A | XP_016866098.1:n.25081+4G>A | |
| XM_017010610.1:c.25060+4G>A | XP_016866099.1:n.25060+4G>A | |
| XM_017010611.2:c.25054+4G>A | XP_016866100.1:n.25054+4G>A | |
| XM_017010612.1:c.25003+4G>A | XP_016866101.1:n.25003+4G>A | |
| XM_017010613.1:c.25010-1718G>A | XP_016866102.1:n.25010-1718G>A | |
| XM_017010614.1:c.24925+4G>A | XP_016866103.1:n.24925+4G>A | |
| XM_017010615.1:c.24857-1718G>A | XP_016866104.1:n.24857-1718G>A | |
| XM_017010616.1:c.25013-1718G>A | XP_016866105.1:n.25013-1718G>A | |
| XM_017010617.1:c.25010-1718G>A | XP_016866106.1:n.25010-1718G>A | |
| XM_017010618.1:c.24998-1718G>A | XP_016866107.1:n.24998-1718G>A | |
| XM_017010619.1:c.23356+4G>A | XP_016866108.1:n.23356+4G>A | |
| NM_182961.4:c.24977-1718G>A MANE Select | NP_892006.3:n.24977-1718G>A | |
| NM_001347701.2:c.1583-1718G>A | NP_001334630.1:n.1583-1718G>A | |
| NM_001347702.2:c.1510+4G>A MANE Plus Clinical | NP_001334631.1:n.1510+4G>A | |
| NM_033071.5:c.24832+4G>A | NP_149062.2:n.24832+4G>A |