Linked Data
ClinVar Variation Id:
355816
dbSNP Id:
rs754355745
ExAC:
6:152477034 T / A
gnomAD v2:
6-152477034-T-A
gnomAD v3:
6-152155899-T-A
gnomAD v4:
6-152155899-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152155899T>A , CM000668.2:g.152155899T>A | GRCh38 |
| NC_000006.11:g.152477034T>A , CM000668.1:g.152477034T>A | GRCh37 |
| NC_000006.10:g.152518727T>A | NCBI36 |
| NG_012855.1:g.486501A>T | |
| NG_012855.2:g.486501A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.443+11A>T MANE Plus Clinical | ENSP00000346701.4:n.443+11A>T | |
| ENST00000367255.10:c.23978+11A>T MANE Select | ENSP00000356224.5:n.23978+11A>T | |
| ENST00000423061.6:c.23765+11A>T | ENSP00000396024.1:n.23765+11A>T | |
| ENST00000341594.9:c.22763+11A>T | ENSP00000341887.6:n.22763+11A>T | |
| ENST00000347037.9:n.657+11A>T | ||
| ENST00000354674.4:c.443+11A>T | ENSP00000346701.4:n.443+11A>T | |
| ENST00000367251.7:c.2744+11A>T | ENSP00000356220.3:n.2744+11A>T | |
| ENST00000367255.9:c.23978+11A>T | ENSP00000356224.5:n.23978+11A>T | |
| ENST00000367256.9:n.7670+11A>T | ||
| ENST00000367257.8:c.1916+11A>T | ENSP00000356226.4:n.1916+11A>T | |
| ENST00000409694.6:n.7562+11A>T | ||
| ENST00000423061.5:c.23765+11A>T | ENSP00000396024.1:n.23765+11A>T | |
| ENST00000460912.6:n.523+11A>T | ||
| ENST00000536990.5:n.815+11A>T | ||
| ENST00000539504.5:c.443+11A>T | ENSP00000441052.1:n.443+11A>T | |
| NM_033071.3:c.23765+11A>T | NP_149062.1:n.23765+11A>T | |
| NM_182961.3:c.23978+11A>T | NP_892006.3:n.23978+11A>T | |
| XM_006715407.1:c.24014+11A>T | XP_006715470.1:n.24014+11A>T | |
| XM_006715408.1:c.24002+11A>T | XP_006715471.1:n.24002+11A>T | |
| XM_006715409.1:c.23993+11A>T | XP_006715472.1:n.23993+11A>T | |
| XM_006715410.1:c.24014+11A>T | XP_006715473.1:n.24014+11A>T | |
| XM_006715411.1:c.23963+11A>T | XP_006715474.1:n.23963+11A>T | |
| XM_006715412.1:c.23999+11A>T | XP_006715475.1:n.23999+11A>T | |
| XM_006715413.1:c.24014+11A>T | XP_006715476.1:n.24014+11A>T | |
| XM_006715414.1:c.23942+11A>T | XP_006715477.1:n.23942+11A>T | |
| XM_006715415.1:c.24014+11A>T | XP_006715478.1:n.24014+11A>T | |
| XM_006715416.1:c.23999+11A>T | XP_006715479.1:n.23999+11A>T | |
| XM_006715417.1:c.23873+11A>T | XP_006715480.1:n.23873+11A>T | |
| XM_006715420.1:c.23861+11A>T | XP_006715483.1:n.23861+11A>T | |
| XM_006715421.1:c.23858+11A>T | XP_006715484.1:n.23858+11A>T | |
| XM_006715422.1:c.23855+11A>T | XP_006715485.1:n.23855+11A>T | |
| XM_006715423.1:c.24014+11A>T | XP_006715486.1:n.24014+11A>T | |
| XM_006715424.1:c.24014+11A>T | XP_006715487.1:n.24014+11A>T | |
| XM_006715425.1:c.24014+11A>T | XP_006715488.1:n.24014+11A>T | |
| XM_011535641.1:c.24011+11A>T | XP_011533943.1:n.24011+11A>T | |
| XM_011535642.1:c.23999+11A>T | XP_011533944.1:n.23999+11A>T | |
| XM_011535643.1:c.23849+11A>T | XP_011533945.1:n.23849+11A>T | |
| XM_011535644.1:c.22289+11A>T | XP_011533946.1:n.22289+11A>T | |
| XM_011535645.1:c.21782+11A>T | XP_011533947.1:n.21782+11A>T | |
| XM_011535647.1:c.17249+11A>T | XP_011533949.1:n.17249+11A>T | |
| NM_001347701.1:c.584+11A>T | NP_001334630.1:n.584+11A>T | |
| NM_001347702.1:c.443+11A>T | NP_001334631.1:n.443+11A>T | |
| XM_006715408.2:c.24002+11A>T | XP_006715471.1:n.24002+11A>T | |
| XM_006715410.2:c.24014+11A>T | XP_006715473.1:n.24014+11A>T | |
| XM_006715412.2:c.23999+11A>T | XP_006715475.1:n.23999+11A>T | |
| XM_006715413.2:c.24014+11A>T | XP_006715476.1:n.24014+11A>T | |
| XM_006715415.2:c.24014+11A>T | XP_006715478.1:n.24014+11A>T | |
| XM_006715416.2:c.23999+11A>T | XP_006715479.1:n.23999+11A>T | |
| XM_006715417.2:c.23873+11A>T | XP_006715480.1:n.23873+11A>T | |
| XM_006715420.2:c.23861+11A>T | XP_006715483.1:n.23861+11A>T | |
| XM_006715421.2:c.23858+11A>T | XP_006715484.1:n.23858+11A>T | |
| XM_006715423.2:c.24014+11A>T | XP_006715486.1:n.24014+11A>T | |
| XM_006715424.2:c.24014+11A>T | XP_006715487.1:n.24014+11A>T | |
| XM_006715425.2:c.24014+11A>T | XP_006715488.1:n.24014+11A>T | |
| XM_011535641.2:c.24011+11A>T | XP_011533943.1:n.24011+11A>T | |
| XM_011535642.2:c.23999+11A>T | XP_011533944.1:n.23999+11A>T | |
| XM_011535645.2:c.21782+11A>T | XP_011533947.1:n.21782+11A>T | |
| XM_017010608.1:c.24014+11A>T | XP_016866097.1:n.24014+11A>T | |
| XM_017010609.1:c.24014+11A>T | XP_016866098.1:n.24014+11A>T | |
| XM_017010610.1:c.23993+11A>T | XP_016866099.1:n.23993+11A>T | |
| XM_017010611.2:c.23987+11A>T | XP_016866100.1:n.23987+11A>T | |
| XM_017010612.1:c.23936+11A>T | XP_016866101.1:n.23936+11A>T | |
| XM_017010613.1:c.24011+11A>T | XP_016866102.1:n.24011+11A>T | |
| XM_017010614.1:c.23858+11A>T | XP_016866103.1:n.23858+11A>T | |
| XM_017010615.1:c.23858+11A>T | XP_016866104.1:n.23858+11A>T | |
| XM_017010616.1:c.24014+11A>T | XP_016866105.1:n.24014+11A>T | |
| XM_017010617.1:c.24011+11A>T | XP_016866106.1:n.24011+11A>T | |
| XM_017010618.1:c.23999+11A>T | XP_016866107.1:n.23999+11A>T | |
| XM_017010619.1:c.22289+11A>T | XP_016866108.1:n.22289+11A>T | |
| NM_182961.4:c.23978+11A>T MANE Select | NP_892006.3:n.23978+11A>T | |
| NM_001347701.2:c.584+11A>T | NP_001334630.1:n.584+11A>T | |
| NM_001347702.2:c.443+11A>T MANE Plus Clinical | NP_001334631.1:n.443+11A>T | |
| NM_033071.5:c.23765+11A>T | NP_149062.2:n.23765+11A>T |