Linked Data
ClinVar Variation Id:
283708
dbSNP Id:
rs73619386
ExAC:
6:152557346 A / G
gnomAD v2:
6-152557346-A-G
gnomAD v3:
6-152236211-A-G
gnomAD v4:
6-152236211-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152236211A>G , CM000668.2:g.152236211A>G | GRCh38 |
| NC_000006.11:g.152557346A>G , CM000668.1:g.152557346A>G | GRCh37 |
| NC_000006.10:g.152599039A>G | NCBI36 |
| NG_012855.1:g.406189T>C | |
| NG_012855.2:g.406189T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367255.10:c.20292T>C MANE Select | ENSP00000356224.5:p.Asp6764= | |
| ENST00000423061.6:c.20079T>C | ENSP00000396024.1:p.Asp6693= | |
| ENST00000341594.9:c.19077T>C | ENSP00000341887.6:p.Asp6359= | |
| ENST00000367255.9:c.20292T>C | ENSP00000356224.5:p.Asp6764= | |
| ENST00000367256.9:n.3984T>C | ||
| ENST00000409694.6:n.3876T>C | ||
| ENST00000423061.5:c.20079T>C | ENSP00000396024.1:p.Asp6693= | |
| NM_033071.3:c.20079T>C | NP_149062.1:p.Asp6693= | |
| NM_182961.3:c.20292T>C | NP_892006.3:p.Asp6764= | |
| XM_006715407.1:c.20328T>C | XP_006715470.1:p.Asp6776= | |
| XM_006715408.1:c.20316T>C | XP_006715471.1:p.Asp6772= | |
| XM_006715409.1:c.20307T>C | XP_006715472.1:p.Asp6769= | |
| XM_006715410.1:c.20328T>C | XP_006715473.1:p.Asp6776= | |
| XM_006715411.1:c.20277T>C | XP_006715474.1:p.Asp6759= | |
| XM_006715412.1:c.20313T>C | XP_006715475.1:p.Asp6771= | |
| XM_006715413.1:c.20328T>C | XP_006715476.1:p.Asp6776= | |
| XM_006715414.1:c.20256T>C | XP_006715477.1:p.Asp6752= | |
| XM_006715415.1:c.20328T>C | XP_006715478.1:p.Asp6776= | |
| XM_006715416.1:c.20313T>C | XP_006715479.1:p.Asp6771= | |
| XM_006715417.1:c.20187T>C | XP_006715480.1:p.Asp6729= | |
| XM_006715420.1:c.20175T>C | XP_006715483.1:p.Asp6725= | |
| XM_006715421.1:c.20172T>C | XP_006715484.1:p.Asp6724= | |
| XM_006715422.1:c.20169T>C | XP_006715485.1:p.Asp6723= | |
| XM_006715423.1:c.20328T>C | XP_006715486.1:p.Asp6776= | |
| XM_006715424.1:c.20328T>C | XP_006715487.1:p.Asp6776= | |
| XM_006715425.1:c.20328T>C | XP_006715488.1:p.Asp6776= | |
| XM_011535641.1:c.20325T>C | XP_011533943.1:p.Asp6775= | |
| XM_011535642.1:c.20313T>C | XP_011533944.1:p.Asp6771= | |
| XM_011535643.1:c.20163T>C | XP_011533945.1:p.Asp6721= | |
| XM_011535644.1:c.18603T>C | XP_011533946.1:p.Asp6201= | |
| XM_011535645.1:c.18096T>C | XP_011533947.1:p.Asp6032= | |
| XM_011535647.1:c.13563T>C | XP_011533949.1:p.Asp4521= | |
| XM_006715408.2:c.20316T>C | XP_006715471.1:p.Asp6772= | |
| XM_006715410.2:c.20328T>C | XP_006715473.1:p.Asp6776= | |
| XM_006715412.2:c.20313T>C | XP_006715475.1:p.Asp6771= | |
| XM_006715413.2:c.20328T>C | XP_006715476.1:p.Asp6776= | |
| XM_006715415.2:c.20328T>C | XP_006715478.1:p.Asp6776= | |
| XM_006715416.2:c.20313T>C | XP_006715479.1:p.Asp6771= | |
| XM_006715417.2:c.20187T>C | XP_006715480.1:p.Asp6729= | |
| XM_006715420.2:c.20175T>C | XP_006715483.1:p.Asp6725= | |
| XM_006715421.2:c.20172T>C | XP_006715484.1:p.Asp6724= | |
| XM_006715423.2:c.20328T>C | XP_006715486.1:p.Asp6776= | |
| XM_006715424.2:c.20328T>C | XP_006715487.1:p.Asp6776= | |
| XM_006715425.2:c.20328T>C | XP_006715488.1:p.Asp6776= | |
| XM_011535641.2:c.20325T>C | XP_011533943.1:p.Asp6775= | |
| XM_011535642.2:c.20313T>C | XP_011533944.1:p.Asp6771= | |
| XM_011535645.2:c.18096T>C | XP_011533947.1:p.Asp6032= | |
| XM_017010608.1:c.20328T>C | XP_016866097.1:p.Asp6776= | |
| XM_017010609.1:c.20328T>C | XP_016866098.1:p.Asp6776= | |
| XM_017010610.1:c.20307T>C | XP_016866099.1:p.Asp6769= | |
| XM_017010611.2:c.20301T>C | XP_016866100.1:p.Asp6767= | |
| XM_017010612.1:c.20250T>C | XP_016866101.1:p.Asp6750= | |
| XM_017010613.1:c.20325T>C | XP_016866102.1:p.Asp6775= | |
| XM_017010614.1:c.20172T>C | XP_016866103.1:p.Asp6724= | |
| XM_017010615.1:c.20172T>C | XP_016866104.1:p.Asp6724= | |
| XM_017010616.1:c.20328T>C | XP_016866105.1:p.Asp6776= | |
| XM_017010617.1:c.20325T>C | XP_016866106.1:p.Asp6775= | |
| XM_017010618.1:c.20313T>C | XP_016866107.1:p.Asp6771= | |
| XM_017010619.1:c.18603T>C | XP_016866108.1:p.Asp6201= | |
| NM_182961.4:c.20292T>C MANE Select | NP_892006.3:p.Asp6764= | |
| NM_033071.5:c.20079T>C | NP_149062.2:p.Asp6693= |