Linked Data
ClinVar Variation Id:
497307
dbSNP Id:
rs372723292
ExAC:
6:152576806 A / G
gnomAD v2:
6-152576806-A-G
gnomAD v3:
6-152255671-A-G
gnomAD v4:
6-152255671-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152255671A>G , CM000668.2:g.152255671A>G | GRCh38 |
| NC_000006.11:g.152576806A>G , CM000668.1:g.152576806A>G | GRCh37 |
| NC_000006.10:g.152618499A>G | NCBI36 |
| NG_012855.1:g.386729T>C | |
| NG_012855.2:g.386729T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.19180T>C MANE Select | ENSP00000356224.5:p.Leu6394= | |
| ENST00000423061.6:c.18967T>C | ENSP00000396024.1:p.Leu6323= | |
| ENST00000341594.9:c.17965T>C | ENSP00000341887.6:p.Leu5989= | |
| ENST00000367255.9:c.19180T>C | ENSP00000356224.5:p.Leu6394= | |
| ENST00000367256.9:n.2872T>C | ||
| ENST00000409694.6:n.2764T>C | ||
| ENST00000423061.5:c.18967T>C | ENSP00000396024.1:p.Leu6323= | |
| ENST00000545694.1:n.481T>C | ||
| NM_033071.3:c.18967T>C | NP_149062.1:p.Leu6323= | |
| NM_182961.3:c.19180T>C | NP_892006.3:p.Leu6394= | |
| XM_006715407.1:c.19216T>C | XP_006715470.1:p.Leu6406= | |
| XM_006715408.1:c.19204T>C | XP_006715471.1:p.Leu6402= | |
| XM_006715409.1:c.19195T>C | XP_006715472.1:p.Leu6399= | |
| XM_006715410.1:c.19216T>C | XP_006715473.1:p.Leu6406= | |
| XM_006715411.1:c.19165T>C | XP_006715474.1:p.Leu6389= | |
| XM_006715412.1:c.19201T>C | XP_006715475.1:p.Leu6401= | |
| XM_006715413.1:c.19216T>C | XP_006715476.1:p.Leu6406= | |
| XM_006715414.1:c.19144T>C | XP_006715477.1:p.Leu6382= | |
| XM_006715415.1:c.19216T>C | XP_006715478.1:p.Leu6406= | |
| XM_006715416.1:c.19201T>C | XP_006715479.1:p.Leu6401= | |
| XM_006715417.1:c.19075T>C | XP_006715480.1:p.Leu6359= | |
| XM_006715420.1:c.19063T>C | XP_006715483.1:p.Leu6355= | |
| XM_006715421.1:c.19060T>C | XP_006715484.1:p.Leu6354= | |
| XM_006715422.1:c.19057T>C | XP_006715485.1:p.Leu6353= | |
| XM_006715423.1:c.19216T>C | XP_006715486.1:p.Leu6406= | |
| XM_006715424.1:c.19216T>C | XP_006715487.1:p.Leu6406= | |
| XM_006715425.1:c.19216T>C | XP_006715488.1:p.Leu6406= | |
| XM_011535641.1:c.19213T>C | XP_011533943.1:p.Leu6405= | |
| XM_011535642.1:c.19201T>C | XP_011533944.1:p.Leu6401= | |
| XM_011535643.1:c.19051T>C | XP_011533945.1:p.Leu6351= | |
| XM_011535644.1:c.17491T>C | XP_011533946.1:p.Leu5831= | |
| XM_011535645.1:c.16984T>C | XP_011533947.1:p.Leu5662= | |
| XM_011535646.1:c.19216T>C | XP_011533948.1:p.Leu6406= | |
| XM_011535647.1:c.12451T>C | XP_011533949.1:p.Leu4151= | |
| XM_006715408.2:c.19204T>C | XP_006715471.1:p.Leu6402= | |
| XM_006715410.2:c.19216T>C | XP_006715473.1:p.Leu6406= | |
| XM_006715412.2:c.19201T>C | XP_006715475.1:p.Leu6401= | |
| XM_006715413.2:c.19216T>C | XP_006715476.1:p.Leu6406= | |
| XM_006715415.2:c.19216T>C | XP_006715478.1:p.Leu6406= | |
| XM_006715416.2:c.19201T>C | XP_006715479.1:p.Leu6401= | |
| XM_006715417.2:c.19075T>C | XP_006715480.1:p.Leu6359= | |
| XM_006715420.2:c.19063T>C | XP_006715483.1:p.Leu6355= | |
| XM_006715421.2:c.19060T>C | XP_006715484.1:p.Leu6354= | |
| XM_006715423.2:c.19216T>C | XP_006715486.1:p.Leu6406= | |
| XM_006715424.2:c.19216T>C | XP_006715487.1:p.Leu6406= | |
| XM_006715425.2:c.19216T>C | XP_006715488.1:p.Leu6406= | |
| XM_011535641.2:c.19213T>C | XP_011533943.1:p.Leu6405= | |
| XM_011535642.2:c.19201T>C | XP_011533944.1:p.Leu6401= | |
| XM_011535645.2:c.16984T>C | XP_011533947.1:p.Leu5662= | |
| XM_017010608.1:c.19216T>C | XP_016866097.1:p.Leu6406= | |
| XM_017010609.1:c.19216T>C | XP_016866098.1:p.Leu6406= | |
| XM_017010610.1:c.19195T>C | XP_016866099.1:p.Leu6399= | |
| XM_017010611.2:c.19189T>C | XP_016866100.1:p.Leu6397= | |
| XM_017010612.1:c.19138T>C | XP_016866101.1:p.Leu6380= | |
| XM_017010613.1:c.19213T>C | XP_016866102.1:p.Leu6405= | |
| XM_017010614.1:c.19060T>C | XP_016866103.1:p.Leu6354= | |
| XM_017010615.1:c.19060T>C | XP_016866104.1:p.Leu6354= | |
| XM_017010616.1:c.19216T>C | XP_016866105.1:p.Leu6406= | |
| XM_017010617.1:c.19213T>C | XP_016866106.1:p.Leu6405= | |
| XM_017010618.1:c.19201T>C | XP_016866107.1:p.Leu6401= | |
| XM_017010619.1:c.17491T>C | XP_016866108.1:p.Leu5831= | |
| XR_001743287.1:n.19699T>C | ||
| NM_182961.4:c.19180T>C MANE Select | NP_892006.3:p.Leu6394= | |
| NM_033071.5:c.18967T>C | NP_149062.2:p.Leu6323= |