Linked Data
ClinVar Variation Id:
282456
dbSNP Id:
rs138407813
ExAC:
6:152469275 T / C
gnomAD v2:
6-152469275-T-C
gnomAD v3:
6-152148140-T-C
gnomAD v4:
6-152148140-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152148140T>C , CM000668.2:g.152148140T>C | GRCh38 |
| NC_000006.11:g.152469275T>C , CM000668.1:g.152469275T>C | GRCh37 |
| NC_000006.10:g.152510968T>C | NCBI36 |
| NG_012855.1:g.494260A>G | |
| NG_012855.2:g.494260A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1346A>G MANE Plus Clinical | ENSP00000346701.4:p.Asp449Gly | |
| ENST00000367255.10:c.24881A>G MANE Select | ENSP00000356224.5:p.Asp8294Gly | |
| ENST00000423061.6:c.24668A>G | ENSP00000396024.1:p.Asp8223Gly | |
| ENST00000672154.1:c.283A>G | ||
| ENST00000672169.1:c.616A>G | ||
| ENST00000673173.1:c.795A>G | ||
| ENST00000673451.1:c.653A>G | ENSP00000500189.1:p.Asp218Gly | |
| ENST00000341594.9:c.23666A>G | ENSP00000341887.6:p.Asp7889Gly | |
| ENST00000347037.9:n.1560A>G | ||
| ENST00000354674.4:c.1346A>G | ENSP00000346701.4:p.Asp449Gly | |
| ENST00000367251.7:c.3647A>G | ENSP00000356220.3:p.Asp1216Gly | |
| ENST00000367255.9:c.24881A>G | ENSP00000356224.5:p.Asp8294Gly | |
| ENST00000367256.9:n.8573A>G | ||
| ENST00000367257.8:c.2819A>G | ENSP00000356226.4:p.Asp940Gly | |
| ENST00000409694.6:n.8465A>G | ||
| ENST00000423061.5:c.24668A>G | ENSP00000396024.1:p.Asp8223Gly | |
| ENST00000460912.6:n.1426A>G | ||
| ENST00000472563.2:n.269A>G | ||
| ENST00000536990.5:n.1718A>G | ||
| ENST00000539504.5:c.1346A>G | ENSP00000441052.1:p.Asp449Gly | |
| NM_033071.3:c.24668A>G | NP_149062.1:p.Asp8223Gly | |
| NM_182961.3:c.24881A>G | NP_892006.3:p.Asp8294Gly | |
| XM_006715407.1:c.24917A>G | XP_006715470.1:p.Asp8306Gly | |
| XM_006715408.1:c.24905A>G | XP_006715471.1:p.Asp8302Gly | |
| XM_006715409.1:c.24896A>G | XP_006715472.1:p.Asp8299Gly | |
| XM_006715410.1:c.24917A>G | XP_006715473.1:p.Asp8306Gly | |
| XM_006715411.1:c.24866A>G | XP_006715474.1:p.Asp8289Gly | |
| XM_006715412.1:c.24902A>G | XP_006715475.1:p.Asp8301Gly | |
| XM_006715413.1:c.24917A>G | XP_006715476.1:p.Asp8306Gly | |
| XM_006715414.1:c.24845A>G | XP_006715477.1:p.Asp8282Gly | |
| XM_006715415.1:c.24917A>G | XP_006715478.1:p.Asp8306Gly | |
| XM_006715416.1:c.24902A>G | XP_006715479.1:p.Asp8301Gly | |
| XM_006715417.1:c.24776A>G | XP_006715480.1:p.Asp8259Gly | |
| XM_006715420.1:c.24764A>G | XP_006715483.1:p.Asp8255Gly | |
| XM_006715421.1:c.24761A>G | XP_006715484.1:p.Asp8254Gly | |
| XM_006715422.1:c.24758A>G | XP_006715485.1:p.Asp8253Gly | |
| XM_006715423.1:c.24917A>G | XP_006715486.1:p.Asp8306Gly | |
| XM_006715424.1:c.24917A>G | XP_006715487.1:p.Asp8306Gly | |
| XM_006715425.1:c.24917A>G | XP_006715488.1:p.Asp8306Gly | |
| XM_011535641.1:c.24914A>G | XP_011533943.1:p.Asp8305Gly | |
| XM_011535642.1:c.24902A>G | XP_011533944.1:p.Asp8301Gly | |
| XM_011535643.1:c.24752A>G | XP_011533945.1:p.Asp8251Gly | |
| XM_011535644.1:c.23192A>G | XP_011533946.1:p.Asp7731Gly | |
| XM_011535645.1:c.22685A>G | XP_011533947.1:p.Asp7562Gly | |
| XM_011535647.1:c.18152A>G | XP_011533949.1:p.Asp6051Gly | |
| NM_001347701.1:c.1487A>G | NP_001334630.1:p.Asp496Gly | |
| NM_001347702.1:c.1346A>G | NP_001334631.1:p.Asp449Gly | |
| XM_006715408.2:c.24905A>G | XP_006715471.1:p.Asp8302Gly | |
| XM_006715410.2:c.24917A>G | XP_006715473.1:p.Asp8306Gly | |
| XM_006715412.2:c.24902A>G | XP_006715475.1:p.Asp8301Gly | |
| XM_006715413.2:c.24917A>G | XP_006715476.1:p.Asp8306Gly | |
| XM_006715415.2:c.24917A>G | XP_006715478.1:p.Asp8306Gly | |
| XM_006715416.2:c.24902A>G | XP_006715479.1:p.Asp8301Gly | |
| XM_006715417.2:c.24776A>G | XP_006715480.1:p.Asp8259Gly | |
| XM_006715420.2:c.24764A>G | XP_006715483.1:p.Asp8255Gly | |
| XM_006715421.2:c.24761A>G | XP_006715484.1:p.Asp8254Gly | |
| XM_006715423.2:c.24917A>G | XP_006715486.1:p.Asp8306Gly | |
| XM_006715424.2:c.24917A>G | XP_006715487.1:p.Asp8306Gly | |
| XM_006715425.2:c.24917A>G | XP_006715488.1:p.Asp8306Gly | |
| XM_011535641.2:c.24914A>G | XP_011533943.1:p.Asp8305Gly | |
| XM_011535642.2:c.24902A>G | XP_011533944.1:p.Asp8301Gly | |
| XM_011535645.2:c.22685A>G | XP_011533947.1:p.Asp7562Gly | |
| XM_017010608.1:c.24917A>G | XP_016866097.1:p.Asp8306Gly | |
| XM_017010609.1:c.24917A>G | XP_016866098.1:p.Asp8306Gly | |
| XM_017010610.1:c.24896A>G | XP_016866099.1:p.Asp8299Gly | |
| XM_017010611.2:c.24890A>G | XP_016866100.1:p.Asp8297Gly | |
| XM_017010612.1:c.24839A>G | XP_016866101.1:p.Asp8280Gly | |
| XM_017010613.1:c.24914A>G | XP_016866102.1:p.Asp8305Gly | |
| XM_017010614.1:c.24761A>G | XP_016866103.1:p.Asp8254Gly | |
| XM_017010615.1:c.24761A>G | XP_016866104.1:p.Asp8254Gly | |
| XM_017010616.1:c.24917A>G | XP_016866105.1:p.Asp8306Gly | |
| XM_017010617.1:c.24914A>G | XP_016866106.1:p.Asp8305Gly | |
| XM_017010618.1:c.24902A>G | XP_016866107.1:p.Asp8301Gly | |
| XM_017010619.1:c.23192A>G | XP_016866108.1:p.Asp7731Gly | |
| NM_182961.4:c.24881A>G MANE Select | NP_892006.3:p.Asp8294Gly | |
| NM_001347701.2:c.1487A>G | NP_001334630.1:p.Asp496Gly | |
| NM_001347702.2:c.1346A>G MANE Plus Clinical | NP_001334631.1:p.Asp449Gly | |
| NM_033071.5:c.24668A>G | NP_149062.2:p.Asp8223Gly |