Linked Data
ClinVar Variation Id:
290397
dbSNP Id:
rs377088951
ExAC:
6:152466686 T / C
gnomAD v2:
6-152466686-T-C
gnomAD v3:
6-152145551-T-C
gnomAD v4:
6-152145551-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152145551T>C , CM000668.2:g.152145551T>C | GRCh38 |
| NC_000006.11:g.152466686T>C , CM000668.1:g.152466686T>C | GRCh37 |
| NC_000006.10:g.152508379T>C | NCBI36 |
| NG_012855.1:g.496849A>G | |
| NG_012855.2:g.496849A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1446A>G MANE Plus Clinical | ENSP00000346701.4:p.Val482= | |
| ENST00000367255.10:c.24977-1786A>G MANE Select | ENSP00000356224.5:n.24977-1786A>G | |
| ENST00000423061.6:c.24768A>G | ENSP00000396024.1:p.Val8256= | |
| ENST00000672154.1:c.379-1786A>G | ||
| ENST00000672169.1:c.712-1786A>G | ||
| ENST00000673173.1:c.890+2494A>G | ||
| ENST00000673451.1:c.749-1786A>G | ENSP00000500189.1:n.749-1786A>G | |
| ENST00000341594.9:c.23762-1786A>G | ENSP00000341887.6:n.23762-1786A>G | |
| ENST00000347037.9:n.1660A>G | ||
| ENST00000354674.4:c.1446A>G | ENSP00000346701.4:p.Val482= | |
| ENST00000367251.7:c.3747A>G | ENSP00000356220.3:p.Val1249= | |
| ENST00000367255.9:c.24977-1786A>G | ENSP00000356224.5:n.24977-1786A>G | |
| ENST00000367256.9:n.8669-1786A>G | ||
| ENST00000367257.8:c.2915-1786A>G | ENSP00000356226.4:n.2915-1786A>G | |
| ENST00000409694.6:n.8561-1786A>G | ||
| ENST00000423061.5:c.24768A>G | ENSP00000396024.1:p.Val8256= | |
| ENST00000460912.6:n.1526A>G | ||
| ENST00000478916.5:n.2213A>G | ||
| ENST00000536990.5:n.1814-1786A>G | ||
| ENST00000539504.5:c.1442-1786A>G | ENSP00000441052.1:n.1442-1786A>G | |
| NM_033071.3:c.24768A>G | NP_149062.1:p.Val8256= | |
| NM_182961.3:c.24977-1786A>G | NP_892006.3:n.24977-1786A>G | |
| XM_006715407.1:c.25017A>G | XP_006715470.1:p.Val8339= | |
| XM_006715408.1:c.25005A>G | XP_006715471.1:p.Val8335= | |
| XM_006715409.1:c.24996A>G | XP_006715472.1:p.Val8332= | |
| XM_006715410.1:c.25017A>G | XP_006715473.1:p.Val8339= | |
| XM_006715411.1:c.24966A>G | XP_006715474.1:p.Val8322= | |
| XM_006715412.1:c.25002A>G | XP_006715475.1:p.Val8334= | |
| XM_006715413.1:c.25013-1786A>G | XP_006715476.1:n.25013-1786A>G | |
| XM_006715414.1:c.24945A>G | XP_006715477.1:p.Val8315= | |
| XM_006715415.1:c.25013-1786A>G | XP_006715478.1:n.25013-1786A>G | |
| XM_006715416.1:c.24998-1786A>G | XP_006715479.1:n.24998-1786A>G | |
| XM_006715417.1:c.24876A>G | XP_006715480.1:p.Val8292= | |
| XM_006715420.1:c.24864A>G | XP_006715483.1:p.Val8288= | |
| XM_006715421.1:c.24861A>G | XP_006715484.1:p.Val8287= | |
| XM_006715422.1:c.24858A>G | XP_006715485.1:p.Val8286= | |
| XM_006715423.1:c.25017A>G | XP_006715486.1:p.Val8339= | |
| XM_006715424.1:c.25017A>G | XP_006715487.1:p.Val8339= | |
| XM_006715425.1:c.25013-1786A>G | XP_006715488.1:n.25013-1786A>G | |
| XM_011535641.1:c.25014A>G | XP_011533943.1:p.Val8338= | |
| XM_011535642.1:c.25002A>G | XP_011533944.1:p.Val8334= | |
| XM_011535643.1:c.24852A>G | XP_011533945.1:p.Val8284= | |
| XM_011535644.1:c.23292A>G | XP_011533946.1:p.Val7764= | |
| XM_011535645.1:c.22785A>G | XP_011533947.1:p.Val7595= | |
| XM_011535647.1:c.18252A>G | XP_011533949.1:p.Val6084= | |
| NM_001347701.1:c.1583-1786A>G | NP_001334630.1:n.1583-1786A>G | |
| NM_001347702.1:c.1446A>G | NP_001334631.1:p.Val482= | |
| XM_006715408.2:c.25005A>G | XP_006715471.1:p.Val8335= | |
| XM_006715410.2:c.25017A>G | XP_006715473.1:p.Val8339= | |
| XM_006715412.2:c.25002A>G | XP_006715475.1:p.Val8334= | |
| XM_006715413.2:c.25013-1786A>G | XP_006715476.1:n.25013-1786A>G | |
| XM_006715415.2:c.25013-1786A>G | XP_006715478.1:n.25013-1786A>G | |
| XM_006715416.2:c.24998-1786A>G | XP_006715479.1:n.24998-1786A>G | |
| XM_006715417.2:c.24876A>G | XP_006715480.1:p.Val8292= | |
| XM_006715420.2:c.24864A>G | XP_006715483.1:p.Val8288= | |
| XM_006715421.2:c.24861A>G | XP_006715484.1:p.Val8287= | |
| XM_006715423.2:c.25017A>G | XP_006715486.1:p.Val8339= | |
| XM_006715424.2:c.25017A>G | XP_006715487.1:p.Val8339= | |
| XM_006715425.2:c.25013-1786A>G | XP_006715488.1:n.25013-1786A>G | |
| XM_011535641.2:c.25014A>G | XP_011533943.1:p.Val8338= | |
| XM_011535642.2:c.25002A>G | XP_011533944.1:p.Val8334= | |
| XM_011535645.2:c.22785A>G | XP_011533947.1:p.Val7595= | |
| XM_017010608.1:c.25017A>G | XP_016866097.1:p.Val8339= | |
| XM_017010609.1:c.25017A>G | XP_016866098.1:p.Val8339= | |
| XM_017010610.1:c.24996A>G | XP_016866099.1:p.Val8332= | |
| XM_017010611.2:c.24990A>G | XP_016866100.1:p.Val8330= | |
| XM_017010612.1:c.24939A>G | XP_016866101.1:p.Val8313= | |
| XM_017010613.1:c.25010-1786A>G | XP_016866102.1:n.25010-1786A>G | |
| XM_017010614.1:c.24861A>G | XP_016866103.1:p.Val8287= | |
| XM_017010615.1:c.24857-1786A>G | XP_016866104.1:n.24857-1786A>G | |
| XM_017010616.1:c.25013-1786A>G | XP_016866105.1:n.25013-1786A>G | |
| XM_017010617.1:c.25010-1786A>G | XP_016866106.1:n.25010-1786A>G | |
| XM_017010618.1:c.24998-1786A>G | XP_016866107.1:n.24998-1786A>G | |
| XM_017010619.1:c.23292A>G | XP_016866108.1:p.Val7764= | |
| NM_182961.4:c.24977-1786A>G MANE Select | NP_892006.3:n.24977-1786A>G | |
| NM_001347701.2:c.1583-1786A>G | NP_001334630.1:n.1583-1786A>G | |
| NM_001347702.2:c.1446A>G MANE Plus Clinical | NP_001334631.1:p.Val482= | |
| NM_033071.5:c.24768A>G | NP_149062.2:p.Val8256= |