Linked Data
ClinVar Variation Id:
76197
dbSNP Id:
rs267600861
ExAC:
6:152469504 C / T
gnomAD v2:
6-152469504-C-T
gnomAD v3:
6-152148369-C-T
gnomAD v4:
6-152148369-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152148369C>T , CM000668.2:g.152148369C>T | GRCh38 |
| NC_000006.11:g.152469504C>T , CM000668.1:g.152469504C>T | GRCh37 |
| NC_000006.10:g.152511197C>T | NCBI36 |
| NG_012855.1:g.494031G>A | |
| NG_012855.2:g.494031G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1117G>A MANE Plus Clinical | ENSP00000346701.4:p.Asp373Asn | |
| ENST00000367255.10:c.24652G>A MANE Select | ENSP00000356224.5:p.Asp8218Asn | |
| ENST00000423061.6:c.24439G>A | ENSP00000396024.1:p.Asp8147Asn | |
| ENST00000672154.1:c.159-105G>A | ||
| ENST00000672169.1:c.387G>A | ||
| ENST00000673173.1:c.566G>A | ||
| ENST00000673451.1:c.424G>A | ENSP00000500189.1:p.Asp142Asn | |
| ENST00000341594.9:c.23437G>A | ENSP00000341887.6:p.Asp7813Asn | |
| ENST00000347037.9:n.1331G>A | ||
| ENST00000354674.4:c.1117G>A | ENSP00000346701.4:p.Asp373Asn | |
| ENST00000367251.7:c.3418G>A | ENSP00000356220.3:p.Asp1140Asn | |
| ENST00000367255.9:c.24652G>A | ENSP00000356224.5:p.Asp8218Asn | |
| ENST00000367256.9:n.8344G>A | ||
| ENST00000367257.8:c.2590G>A | ENSP00000356226.4:p.Asp864Asn | |
| ENST00000409694.6:n.8236G>A | ||
| ENST00000423061.5:c.24439G>A | ENSP00000396024.1:p.Asp8147Asn | |
| ENST00000460912.6:n.1197G>A | ||
| ENST00000472563.2:n.40G>A | ||
| ENST00000536990.5:n.1489G>A | ||
| ENST00000539504.5:c.1117G>A | ENSP00000441052.1:p.Asp373Asn | |
| NM_033071.3:c.24439G>A | NP_149062.1:p.Asp8147Asn | |
| NM_182961.3:c.24652G>A | NP_892006.3:p.Asp8218Asn | |
| XM_006715407.1:c.24688G>A | XP_006715470.1:p.Asp8230Asn | |
| XM_006715408.1:c.24676G>A | XP_006715471.1:p.Asp8226Asn | |
| XM_006715409.1:c.24667G>A | XP_006715472.1:p.Asp8223Asn | |
| XM_006715410.1:c.24688G>A | XP_006715473.1:p.Asp8230Asn | |
| XM_006715411.1:c.24637G>A | XP_006715474.1:p.Asp8213Asn | |
| XM_006715412.1:c.24673G>A | XP_006715475.1:p.Asp8225Asn | |
| XM_006715413.1:c.24688G>A | XP_006715476.1:p.Asp8230Asn | |
| XM_006715414.1:c.24616G>A | XP_006715477.1:p.Asp8206Asn | |
| XM_006715415.1:c.24688G>A | XP_006715478.1:p.Asp8230Asn | |
| XM_006715416.1:c.24673G>A | XP_006715479.1:p.Asp8225Asn | |
| XM_006715417.1:c.24547G>A | XP_006715480.1:p.Asp8183Asn | |
| XM_006715420.1:c.24535G>A | XP_006715483.1:p.Asp8179Asn | |
| XM_006715421.1:c.24532G>A | XP_006715484.1:p.Asp8178Asn | |
| XM_006715422.1:c.24529G>A | XP_006715485.1:p.Asp8177Asn | |
| XM_006715423.1:c.24688G>A | XP_006715486.1:p.Asp8230Asn | |
| XM_006715424.1:c.24688G>A | XP_006715487.1:p.Asp8230Asn | |
| XM_006715425.1:c.24688G>A | XP_006715488.1:p.Asp8230Asn | |
| XM_011535641.1:c.24685G>A | XP_011533943.1:p.Asp8229Asn | |
| XM_011535642.1:c.24673G>A | XP_011533944.1:p.Asp8225Asn | |
| XM_011535643.1:c.24523G>A | XP_011533945.1:p.Asp8175Asn | |
| XM_011535644.1:c.22963G>A | XP_011533946.1:p.Asp7655Asn | |
| XM_011535645.1:c.22456G>A | XP_011533947.1:p.Asp7486Asn | |
| XM_011535647.1:c.17923G>A | XP_011533949.1:p.Asp5975Asn | |
| NM_001347701.1:c.1258G>A | NP_001334630.1:p.Asp420Asn | |
| NM_001347702.1:c.1117G>A | NP_001334631.1:p.Asp373Asn | |
| XM_006715408.2:c.24676G>A | XP_006715471.1:p.Asp8226Asn | |
| XM_006715410.2:c.24688G>A | XP_006715473.1:p.Asp8230Asn | |
| XM_006715412.2:c.24673G>A | XP_006715475.1:p.Asp8225Asn | |
| XM_006715413.2:c.24688G>A | XP_006715476.1:p.Asp8230Asn | |
| XM_006715415.2:c.24688G>A | XP_006715478.1:p.Asp8230Asn | |
| XM_006715416.2:c.24673G>A | XP_006715479.1:p.Asp8225Asn | |
| XM_006715417.2:c.24547G>A | XP_006715480.1:p.Asp8183Asn | |
| XM_006715420.2:c.24535G>A | XP_006715483.1:p.Asp8179Asn | |
| XM_006715421.2:c.24532G>A | XP_006715484.1:p.Asp8178Asn | |
| XM_006715423.2:c.24688G>A | XP_006715486.1:p.Asp8230Asn | |
| XM_006715424.2:c.24688G>A | XP_006715487.1:p.Asp8230Asn | |
| XM_006715425.2:c.24688G>A | XP_006715488.1:p.Asp8230Asn | |
| XM_011535641.2:c.24685G>A | XP_011533943.1:p.Asp8229Asn | |
| XM_011535642.2:c.24673G>A | XP_011533944.1:p.Asp8225Asn | |
| XM_011535645.2:c.22456G>A | XP_011533947.1:p.Asp7486Asn | |
| XM_017010608.1:c.24688G>A | XP_016866097.1:p.Asp8230Asn | |
| XM_017010609.1:c.24688G>A | XP_016866098.1:p.Asp8230Asn | |
| XM_017010610.1:c.24667G>A | XP_016866099.1:p.Asp8223Asn | |
| XM_017010611.2:c.24661G>A | XP_016866100.1:p.Asp8221Asn | |
| XM_017010612.1:c.24610G>A | XP_016866101.1:p.Asp8204Asn | |
| XM_017010613.1:c.24685G>A | XP_016866102.1:p.Asp8229Asn | |
| XM_017010614.1:c.24532G>A | XP_016866103.1:p.Asp8178Asn | |
| XM_017010615.1:c.24532G>A | XP_016866104.1:p.Asp8178Asn | |
| XM_017010616.1:c.24688G>A | XP_016866105.1:p.Asp8230Asn | |
| XM_017010617.1:c.24685G>A | XP_016866106.1:p.Asp8229Asn | |
| XM_017010618.1:c.24673G>A | XP_016866107.1:p.Asp8225Asn | |
| XM_017010619.1:c.22963G>A | XP_016866108.1:p.Asp7655Asn | |
| NM_182961.4:c.24652G>A MANE Select | NP_892006.3:p.Asp8218Asn | |
| NM_001347701.2:c.1258G>A | NP_001334630.1:p.Asp420Asn | |
| NM_001347702.2:c.1117G>A MANE Plus Clinical | NP_001334631.1:p.Asp373Asn | |
| NM_033071.5:c.24439G>A | NP_149062.2:p.Asp8147Asn |