Linked Data
ClinVar Variation Id:
285674
dbSNP Id:
rs77221231
ExAC:
6:152697940 T / G
gnomAD v2:
6-152697940-T-G
gnomAD v3:
6-152376805-T-G
gnomAD v4:
6-152376805-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152376805T>G , CM000668.2:g.152376805T>G | GRCh38 |
| NC_000006.11:g.152697940T>G , CM000668.1:g.152697940T>G | GRCh37 |
| NC_000006.10:g.152739633T>G | NCBI36 |
| NG_012855.1:g.265595A>C | |
| NG_012855.2:g.265595A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454018.7:c.468A>C | ENSP00000390858.4:p.Lys156Asn | |
| ENST00000367255.10:c.9117A>C MANE Select | ENSP00000356224.5:p.Lys3039Asn | |
| ENST00000423061.6:c.9138A>C | ENSP00000396024.1:p.Lys3046Asn | |
| ENST00000341594.9:c.9183A>C | ENSP00000341887.6:p.Lys3061Asn | |
| ENST00000367255.9:c.9117A>C | ENSP00000356224.5:p.Lys3039Asn | |
| ENST00000423061.5:c.9138A>C | ENSP00000396024.1:p.Lys3046Asn | |
| ENST00000454018.6:c.465A>C | ENSP00000390858.3:p.Lys155Asn | |
| ENST00000461872.6:n.9335A>C | ||
| ENST00000471834.1:n.323A>C | ||
| NM_033071.3:c.9138A>C | NP_149062.1:p.Lys3046Asn | |
| NM_182961.3:c.9117A>C | NP_892006.3:p.Lys3039Asn | |
| XM_006715407.1:c.9138A>C | XP_006715470.1:p.Lys3046Asn | |
| XM_006715408.1:c.9138A>C | XP_006715471.1:p.Lys3046Asn | |
| XM_006715409.1:c.9117A>C | XP_006715472.1:p.Lys3039Asn | |
| XM_006715410.1:c.9138A>C | XP_006715473.1:p.Lys3046Asn | |
| XM_006715411.1:c.9087A>C | XP_006715474.1:p.Lys3029Asn | |
| XM_006715412.1:c.9138A>C | XP_006715475.1:p.Lys3046Asn | |
| XM_006715413.1:c.9138A>C | XP_006715476.1:p.Lys3046Asn | |
| XM_006715414.1:c.9066A>C | XP_006715477.1:p.Lys3022Asn | |
| XM_006715415.1:c.9138A>C | XP_006715478.1:p.Lys3046Asn | |
| XM_006715416.1:c.9138A>C | XP_006715479.1:p.Lys3046Asn | |
| XM_006715417.1:c.9138A>C | XP_006715480.1:p.Lys3046Asn | |
| XM_006715420.1:c.9138A>C | XP_006715483.1:p.Lys3046Asn | |
| XM_006715421.1:c.9138A>C | XP_006715484.1:p.Lys3046Asn | |
| XM_006715422.1:c.8979A>C | XP_006715485.1:p.Lys2993Asn | |
| XM_006715423.1:c.9138A>C | XP_006715486.1:p.Lys3046Asn | |
| XM_006715424.1:c.9138A>C | XP_006715487.1:p.Lys3046Asn | |
| XM_006715425.1:c.9138A>C | XP_006715488.1:p.Lys3046Asn | |
| XM_011535641.1:c.9138A>C | XP_011533943.1:p.Lys3046Asn | |
| XM_011535642.1:c.9138A>C | XP_011533944.1:p.Lys3046Asn | |
| XM_011535643.1:c.8973A>C | XP_011533945.1:p.Lys2991Asn | |
| XM_011535644.1:c.7413A>C | XP_011533946.1:p.Lys2471Asn | |
| XM_011535645.1:c.6906A>C | XP_011533947.1:p.Lys2302Asn | |
| XM_011535646.1:c.9138A>C | XP_011533948.1:p.Lys3046Asn | |
| XM_011535647.1:c.2373A>C | XP_011533949.1:p.Lys791Asn | |
| XM_006715408.2:c.9138A>C | XP_006715471.1:p.Lys3046Asn | |
| XM_006715410.2:c.9138A>C | XP_006715473.1:p.Lys3046Asn | |
| XM_006715412.2:c.9138A>C | XP_006715475.1:p.Lys3046Asn | |
| XM_006715413.2:c.9138A>C | XP_006715476.1:p.Lys3046Asn | |
| XM_006715415.2:c.9138A>C | XP_006715478.1:p.Lys3046Asn | |
| XM_006715416.2:c.9138A>C | XP_006715479.1:p.Lys3046Asn | |
| XM_006715417.2:c.9138A>C | XP_006715480.1:p.Lys3046Asn | |
| XM_006715420.2:c.9138A>C | XP_006715483.1:p.Lys3046Asn | |
| XM_006715421.2:c.9138A>C | XP_006715484.1:p.Lys3046Asn | |
| XM_006715423.2:c.9138A>C | XP_006715486.1:p.Lys3046Asn | |
| XM_006715424.2:c.9138A>C | XP_006715487.1:p.Lys3046Asn | |
| XM_006715425.2:c.9138A>C | XP_006715488.1:p.Lys3046Asn | |
| XM_011535641.2:c.9138A>C | XP_011533943.1:p.Lys3046Asn | |
| XM_011535642.2:c.9138A>C | XP_011533944.1:p.Lys3046Asn | |
| XM_011535645.2:c.6906A>C | XP_011533947.1:p.Lys2302Asn | |
| XM_017010608.1:c.9138A>C | XP_016866097.1:p.Lys3046Asn | |
| XM_017010609.1:c.9138A>C | XP_016866098.1:p.Lys3046Asn | |
| XM_017010610.1:c.9117A>C | XP_016866099.1:p.Lys3039Asn | |
| XM_017010611.2:c.9111A>C | XP_016866100.1:p.Lys3037Asn | |
| XM_017010612.1:c.9060A>C | XP_016866101.1:p.Lys3020Asn | |
| XM_017010613.1:c.9138A>C | XP_016866102.1:p.Lys3046Asn | |
| XM_017010614.1:c.9138A>C | XP_016866103.1:p.Lys3046Asn | |
| XM_017010615.1:c.9138A>C | XP_016866104.1:p.Lys3046Asn | |
| XM_017010616.1:c.9138A>C | XP_016866105.1:p.Lys3046Asn | |
| XM_017010617.1:c.9138A>C | XP_016866106.1:p.Lys3046Asn | |
| XM_017010618.1:c.9138A>C | XP_016866107.1:p.Lys3046Asn | |
| XM_017010619.1:c.7413A>C | XP_016866108.1:p.Lys2471Asn | |
| XR_001743287.1:n.9621A>C | ||
| NM_182961.4:c.9117A>C MANE Select | NP_892006.3:p.Lys3039Asn | |
| NM_033071.5:c.9138A>C | NP_149062.2:p.Lys3046Asn |