Linked Data
ClinVar Variation Id:
290678
dbSNP Id:
rs781435849
ExAC:
6:152454429 G / A
gnomAD v2:
6-152454429-G-A
gnomAD v4:
6-152133294-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152133294G>A , CM000668.2:g.152133294G>A | GRCh38 |
| NC_000006.11:g.152454429G>A , CM000668.1:g.152454429G>A | GRCh37 |
| NC_000006.10:g.152496122G>A | NCBI36 |
| NG_012855.1:g.509106C>T | |
| NG_012855.2:g.509106C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2517C>T MANE Plus Clinical | ENSP00000346701.4:p.Asp839= | |
| ENST00000367255.10:c.25983C>T MANE Select | ENSP00000356224.5:p.Asp8661= | |
| ENST00000423061.6:c.25839C>T | ENSP00000396024.1:p.Asp8613= | |
| ENST00000672154.1:c.1385C>T | ||
| ENST00000672169.1:c.1760C>T | ||
| ENST00000673173.1:c.1627C>T | ||
| ENST00000673451.1:c.1833C>T | ENSP00000500189.1:n.1833C>T | |
| ENST00000341594.9:c.24768C>T | ENSP00000341887.6:p.Asp8256= | |
| ENST00000347037.9:n.2731C>T | ||
| ENST00000354674.4:c.2517C>T | ENSP00000346701.4:p.Asp839= | |
| ENST00000367251.7:c.4818C>T | ENSP00000356220.3:p.Asp1606= | |
| ENST00000367255.9:c.25983C>T | ENSP00000356224.5:p.Asp8661= | |
| ENST00000367256.9:n.9675C>T | ||
| ENST00000367257.8:c.3921C>T | ENSP00000356226.4:p.Asp1307= | |
| ENST00000409694.6:n.9567C>T | ||
| ENST00000423061.5:c.25839C>T | ENSP00000396024.1:p.Asp8613= | |
| ENST00000460912.6:n.2597C>T | ||
| ENST00000478916.5:n.6620C>T | ||
| ENST00000536990.5:n.2820C>T | ||
| ENST00000539504.5:c.2448C>T | ENSP00000441052.1:p.Asp816= | |
| NM_033071.3:c.25839C>T | NP_149062.1:p.Asp8613= | |
| NM_182961.3:c.25983C>T | NP_892006.3:p.Asp8661= | |
| XM_006715407.1:c.26130C>T | XP_006715470.1:p.Asp8710= | |
| XM_006715408.1:c.26118C>T | XP_006715471.1:p.Asp8706= | |
| XM_006715409.1:c.26109C>T | XP_006715472.1:p.Asp8703= | |
| XM_006715410.1:c.26088C>T | XP_006715473.1:p.Asp8696= | |
| XM_006715411.1:c.26079C>T | XP_006715474.1:p.Asp8693= | |
| XM_006715412.1:c.26073C>T | XP_006715475.1:p.Asp8691= | |
| XM_006715413.1:c.26061C>T | XP_006715476.1:p.Asp8687= | |
| XM_006715414.1:c.26058C>T | XP_006715477.1:p.Asp8686= | |
| XM_006715415.1:c.26019C>T | XP_006715478.1:p.Asp8673= | |
| XM_006715416.1:c.26004C>T | XP_006715479.1:p.Asp8668= | |
| XM_006715417.1:c.25989C>T | XP_006715480.1:p.Asp8663= | |
| XM_006715420.1:c.25977C>T | XP_006715483.1:p.Asp8659= | |
| XM_006715421.1:c.25974C>T | XP_006715484.1:p.Asp8658= | |
| XM_006715422.1:c.25971C>T | XP_006715485.1:p.Asp8657= | |
| XM_006715423.1:c.26130C>T | XP_006715486.1:p.Asp8710= | |
| XM_006715424.1:c.26088C>T | XP_006715487.1:p.Asp8696= | |
| XM_006715425.1:c.26019C>T | XP_006715488.1:p.Asp8673= | |
| XM_011535641.1:c.26127C>T | XP_011533943.1:p.Asp8709= | |
| XM_011535642.1:c.26115C>T | XP_011533944.1:p.Asp8705= | |
| XM_011535643.1:c.25965C>T | XP_011533945.1:p.Asp8655= | |
| XM_011535644.1:c.24405C>T | XP_011533946.1:p.Asp8135= | |
| XM_011535645.1:c.23898C>T | XP_011533947.1:p.Asp7966= | |
| XM_011535647.1:c.19365C>T | XP_011533949.1:p.Asp6455= | |
| NM_001347701.1:c.2589C>T | NP_001334630.1:p.Asp863= | |
| NM_001347702.1:c.2517C>T | NP_001334631.1:p.Asp839= | |
| XM_006715408.2:c.26118C>T | XP_006715471.1:p.Asp8706= | |
| XM_006715410.2:c.26088C>T | XP_006715473.1:p.Asp8696= | |
| XM_006715412.2:c.26073C>T | XP_006715475.1:p.Asp8691= | |
| XM_006715413.2:c.26061C>T | XP_006715476.1:p.Asp8687= | |
| XM_006715415.2:c.26019C>T | XP_006715478.1:p.Asp8673= | |
| XM_006715416.2:c.26004C>T | XP_006715479.1:p.Asp8668= | |
| XM_006715417.2:c.25989C>T | XP_006715480.1:p.Asp8663= | |
| XM_006715420.2:c.25977C>T | XP_006715483.1:p.Asp8659= | |
| XM_006715421.2:c.25974C>T | XP_006715484.1:p.Asp8658= | |
| XM_006715423.2:c.26130C>T | XP_006715486.1:p.Asp8710= | |
| XM_006715424.2:c.26088C>T | XP_006715487.1:p.Asp8696= | |
| XM_006715425.2:c.26019C>T | XP_006715488.1:p.Asp8673= | |
| XM_011535641.2:c.26127C>T | XP_011533943.1:p.Asp8709= | |
| XM_011535642.2:c.26115C>T | XP_011533944.1:p.Asp8705= | |
| XM_011535645.2:c.23898C>T | XP_011533947.1:p.Asp7966= | |
| XM_017010608.1:c.26130C>T | XP_016866097.1:p.Asp8710= | |
| XM_017010609.1:c.26130C>T | XP_016866098.1:p.Asp8710= | |
| XM_017010610.1:c.26109C>T | XP_016866099.1:p.Asp8703= | |
| XM_017010611.2:c.26103C>T | XP_016866100.1:p.Asp8701= | |
| XM_017010612.1:c.26052C>T | XP_016866101.1:p.Asp8684= | |
| XM_017010613.1:c.26016C>T | XP_016866102.1:p.Asp8672= | |
| XM_017010614.1:c.25974C>T | XP_016866103.1:p.Asp8658= | |
| XM_017010615.1:c.25863C>T | XP_016866104.1:p.Asp8621= | |
| XM_017010616.1:c.26061C>T | XP_016866105.1:p.Asp8687= | |
| XM_017010617.1:c.26016C>T | XP_016866106.1:p.Asp8672= | |
| XM_017010618.1:c.26004C>T | XP_016866107.1:p.Asp8668= | |
| XM_017010619.1:c.24405C>T | XP_016866108.1:p.Asp8135= | |
| NM_182961.4:c.25983C>T MANE Select | NP_892006.3:p.Asp8661= | |
| NM_001347701.2:c.2589C>T | NP_001334630.1:p.Asp863= | |
| NM_001347702.2:c.2517C>T MANE Plus Clinical | NP_001334631.1:p.Asp839= | |
| NM_033071.5:c.25839C>T | NP_149062.2:p.Asp8613= |