Linked Data
ClinVar Variation Id:
538380
dbSNP Id:
rs200178554
ExAC:
6:152456292 T / C
gnomAD v2:
6-152456292-T-C
gnomAD v3:
6-152135157-T-C
gnomAD v4:
6-152135157-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152135157T>C , CM000668.2:g.152135157T>C | GRCh38 |
| NC_000006.11:g.152456292T>C , CM000668.1:g.152456292T>C | GRCh37 |
| NC_000006.10:g.152497985T>C | NCBI36 |
| NG_012855.1:g.507243A>G | |
| NG_012855.2:g.507243A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.2269A>G MANE Plus Clinical | ENSP00000346701.4:p.Ile757Val | |
| ENST00000367255.10:c.25735A>G MANE Select | ENSP00000356224.5:p.Ile8579Val | |
| ENST00000423061.6:c.25591A>G | ENSP00000396024.1:p.Ile8531Val | |
| ENST00000672154.1:c.1137A>G | ||
| ENST00000672169.1:c.1512A>G | ||
| ENST00000673173.1:c.1379A>G | ||
| ENST00000673451.1:c.1507A>G | ENSP00000500189.1:p.Ile503Val | |
| ENST00000341594.9:c.24520A>G | ENSP00000341887.6:p.Ile8174Val | |
| ENST00000347037.9:n.2483A>G | ||
| ENST00000354674.4:c.2269A>G | ENSP00000346701.4:p.Ile757Val | |
| ENST00000367251.7:c.4570A>G | ENSP00000356220.3:p.Ile1524Val | |
| ENST00000367255.9:c.25735A>G | ENSP00000356224.5:p.Ile8579Val | |
| ENST00000367256.9:n.9427A>G | ||
| ENST00000367257.8:c.3673A>G | ENSP00000356226.4:p.Ile1225Val | |
| ENST00000409694.6:n.9319A>G | ||
| ENST00000423061.5:c.25591A>G | ENSP00000396024.1:p.Ile8531Val | |
| ENST00000460912.6:n.2349A>G | ||
| ENST00000478916.5:n.4757A>G | ||
| ENST00000536990.5:n.2572A>G | ||
| ENST00000539504.5:c.2200A>G | ENSP00000441052.1:p.Ile734Val | |
| NM_033071.3:c.25591A>G | NP_149062.1:p.Ile8531Val | |
| NM_182961.3:c.25735A>G | NP_892006.3:p.Ile8579Val | |
| XM_006715407.1:c.25882A>G | XP_006715470.1:p.Ile8628Val | |
| XM_006715408.1:c.25870A>G | XP_006715471.1:p.Ile8624Val | |
| XM_006715409.1:c.25861A>G | XP_006715472.1:p.Ile8621Val | |
| XM_006715410.1:c.25840A>G | XP_006715473.1:p.Ile8614Val | |
| XM_006715411.1:c.25831A>G | XP_006715474.1:p.Ile8611Val | |
| XM_006715412.1:c.25825A>G | XP_006715475.1:p.Ile8609Val | |
| XM_006715413.1:c.25813A>G | XP_006715476.1:p.Ile8605Val | |
| XM_006715414.1:c.25810A>G | XP_006715477.1:p.Ile8604Val | |
| XM_006715415.1:c.25771A>G | XP_006715478.1:p.Ile8591Val | |
| XM_006715416.1:c.25756A>G | XP_006715479.1:p.Ile8586Val | |
| XM_006715417.1:c.25741A>G | XP_006715480.1:p.Ile8581Val | |
| XM_006715420.1:c.25729A>G | XP_006715483.1:p.Ile8577Val | |
| XM_006715421.1:c.25726A>G | XP_006715484.1:p.Ile8576Val | |
| XM_006715422.1:c.25723A>G | XP_006715485.1:p.Ile8575Val | |
| XM_006715423.1:c.25882A>G | XP_006715486.1:p.Ile8628Val | |
| XM_006715424.1:c.25840A>G | XP_006715487.1:p.Ile8614Val | |
| XM_006715425.1:c.25771A>G | XP_006715488.1:p.Ile8591Val | |
| XM_011535641.1:c.25879A>G | XP_011533943.1:p.Ile8627Val | |
| XM_011535642.1:c.25867A>G | XP_011533944.1:p.Ile8623Val | |
| XM_011535643.1:c.25717A>G | XP_011533945.1:p.Ile8573Val | |
| XM_011535644.1:c.24157A>G | XP_011533946.1:p.Ile8053Val | |
| XM_011535645.1:c.23650A>G | XP_011533947.1:p.Ile7884Val | |
| XM_011535647.1:c.19117A>G | XP_011533949.1:p.Ile6373Val | |
| NM_001347701.1:c.2341A>G | NP_001334630.1:p.Ile781Val | |
| NM_001347702.1:c.2269A>G | NP_001334631.1:p.Ile757Val | |
| XM_006715408.2:c.25870A>G | XP_006715471.1:p.Ile8624Val | |
| XM_006715410.2:c.25840A>G | XP_006715473.1:p.Ile8614Val | |
| XM_006715412.2:c.25825A>G | XP_006715475.1:p.Ile8609Val | |
| XM_006715413.2:c.25813A>G | XP_006715476.1:p.Ile8605Val | |
| XM_006715415.2:c.25771A>G | XP_006715478.1:p.Ile8591Val | |
| XM_006715416.2:c.25756A>G | XP_006715479.1:p.Ile8586Val | |
| XM_006715417.2:c.25741A>G | XP_006715480.1:p.Ile8581Val | |
| XM_006715420.2:c.25729A>G | XP_006715483.1:p.Ile8577Val | |
| XM_006715421.2:c.25726A>G | XP_006715484.1:p.Ile8576Val | |
| XM_006715423.2:c.25882A>G | XP_006715486.1:p.Ile8628Val | |
| XM_006715424.2:c.25840A>G | XP_006715487.1:p.Ile8614Val | |
| XM_006715425.2:c.25771A>G | XP_006715488.1:p.Ile8591Val | |
| XM_011535641.2:c.25879A>G | XP_011533943.1:p.Ile8627Val | |
| XM_011535642.2:c.25867A>G | XP_011533944.1:p.Ile8623Val | |
| XM_011535645.2:c.23650A>G | XP_011533947.1:p.Ile7884Val | |
| XM_017010608.1:c.25882A>G | XP_016866097.1:p.Ile8628Val | |
| XM_017010609.1:c.25882A>G | XP_016866098.1:p.Ile8628Val | |
| XM_017010610.1:c.25861A>G | XP_016866099.1:p.Ile8621Val | |
| XM_017010611.2:c.25855A>G | XP_016866100.1:p.Ile8619Val | |
| XM_017010612.1:c.25804A>G | XP_016866101.1:p.Ile8602Val | |
| XM_017010613.1:c.25768A>G | XP_016866102.1:p.Ile8590Val | |
| XM_017010614.1:c.25726A>G | XP_016866103.1:p.Ile8576Val | |
| XM_017010615.1:c.25615A>G | XP_016866104.1:p.Ile8539Val | |
| XM_017010616.1:c.25813A>G | XP_016866105.1:p.Ile8605Val | |
| XM_017010617.1:c.25768A>G | XP_016866106.1:p.Ile8590Val | |
| XM_017010618.1:c.25756A>G | XP_016866107.1:p.Ile8586Val | |
| XM_017010619.1:c.24157A>G | XP_016866108.1:p.Ile8053Val | |
| NM_182961.4:c.25735A>G MANE Select | NP_892006.3:p.Ile8579Val | |
| NM_001347701.2:c.2341A>G | NP_001334630.1:p.Ile781Val | |
| NM_001347702.2:c.2269A>G MANE Plus Clinical | NP_001334631.1:p.Ile757Val | |
| NM_033071.5:c.25591A>G | NP_149062.2:p.Ile8531Val |