Linked Data
ClinVar Variation Id:
538392
dbSNP Id:
rs375476506
ExAC:
6:152462361 T / C
gnomAD v2:
6-152462361-T-C
gnomAD v3:
6-152141226-T-C
gnomAD v4:
6-152141226-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152141226T>C , CM000668.2:g.152141226T>C | GRCh38 |
| NC_000006.11:g.152462361T>C , CM000668.1:g.152462361T>C | GRCh37 |
| NC_000006.10:g.152504054T>C | NCBI36 |
| NG_012855.1:g.501174A>G | |
| NG_012855.2:g.501174A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1757A>G MANE Plus Clinical | ENSP00000346701.4:p.His586Arg | |
| ENST00000367255.10:c.25223A>G MANE Select | ENSP00000356224.5:p.His8408Arg | |
| ENST00000423061.6:c.25079A>G | ENSP00000396024.1:p.His8360Arg | |
| ENST00000672154.1:c.625A>G | ||
| ENST00000672169.1:c.958A>G | ||
| ENST00000673173.1:c.891-1065A>G | ||
| ENST00000673451.1:c.995A>G | ENSP00000500189.1:p.His332Arg | |
| ENST00000341594.9:c.24008A>G | ENSP00000341887.6:p.His8003Arg | |
| ENST00000347037.9:n.1971A>G | ||
| ENST00000354674.4:c.1757A>G | ENSP00000346701.4:p.His586Arg | |
| ENST00000367251.7:c.4058A>G | ENSP00000356220.3:p.His1353Arg | |
| ENST00000367255.9:c.25223A>G | ENSP00000356224.5:p.His8408Arg | |
| ENST00000367256.9:n.8915A>G | ||
| ENST00000367257.8:c.3161A>G | ENSP00000356226.4:p.His1054Arg | |
| ENST00000409694.6:n.8807A>G | ||
| ENST00000423061.5:c.25079A>G | ENSP00000396024.1:p.His8360Arg | |
| ENST00000460912.6:n.1837A>G | ||
| ENST00000478916.5:n.4245A>G | ||
| ENST00000536990.5:n.2060A>G | ||
| ENST00000539504.5:c.1688A>G | ENSP00000441052.1:p.His563Arg | |
| NM_033071.3:c.25079A>G | NP_149062.1:p.His8360Arg | |
| NM_182961.3:c.25223A>G | NP_892006.3:p.His8408Arg | |
| XM_006715407.1:c.25328A>G | XP_006715470.1:p.His8443Arg | |
| XM_006715408.1:c.25316A>G | XP_006715471.1:p.His8439Arg | |
| XM_006715409.1:c.25307A>G | XP_006715472.1:p.His8436Arg | |
| XM_006715410.1:c.25328A>G | XP_006715473.1:p.His8443Arg | |
| XM_006715411.1:c.25277A>G | XP_006715474.1:p.His8426Arg | |
| XM_006715412.1:c.25313A>G | XP_006715475.1:p.His8438Arg | |
| XM_006715413.1:c.25259A>G | XP_006715476.1:p.His8420Arg | |
| XM_006715414.1:c.25256A>G | XP_006715477.1:p.His8419Arg | |
| XM_006715415.1:c.25259A>G | XP_006715478.1:p.His8420Arg | |
| XM_006715416.1:c.25244A>G | XP_006715479.1:p.His8415Arg | |
| XM_006715417.1:c.25187A>G | XP_006715480.1:p.His8396Arg | |
| XM_006715420.1:c.25175A>G | XP_006715483.1:p.His8392Arg | |
| XM_006715421.1:c.25172A>G | XP_006715484.1:p.His8391Arg | |
| XM_006715422.1:c.25169A>G | XP_006715485.1:p.His8390Arg | |
| XM_006715423.1:c.25328A>G | XP_006715486.1:p.His8443Arg | |
| XM_006715424.1:c.25328A>G | XP_006715487.1:p.His8443Arg | |
| XM_006715425.1:c.25259A>G | XP_006715488.1:p.His8420Arg | |
| XM_011535641.1:c.25325A>G | XP_011533943.1:p.His8442Arg | |
| XM_011535642.1:c.25313A>G | XP_011533944.1:p.His8438Arg | |
| XM_011535643.1:c.25163A>G | XP_011533945.1:p.His8388Arg | |
| XM_011535644.1:c.23603A>G | XP_011533946.1:p.His7868Arg | |
| XM_011535645.1:c.23096A>G | XP_011533947.1:p.His7699Arg | |
| XM_011535647.1:c.18563A>G | XP_011533949.1:p.His6188Arg | |
| NM_001347701.1:c.1829A>G | NP_001334630.1:p.His610Arg | |
| NM_001347702.1:c.1757A>G | NP_001334631.1:p.His586Arg | |
| XM_006715408.2:c.25316A>G | XP_006715471.1:p.His8439Arg | |
| XM_006715410.2:c.25328A>G | XP_006715473.1:p.His8443Arg | |
| XM_006715412.2:c.25313A>G | XP_006715475.1:p.His8438Arg | |
| XM_006715413.2:c.25259A>G | XP_006715476.1:p.His8420Arg | |
| XM_006715415.2:c.25259A>G | XP_006715478.1:p.His8420Arg | |
| XM_006715416.2:c.25244A>G | XP_006715479.1:p.His8415Arg | |
| XM_006715417.2:c.25187A>G | XP_006715480.1:p.His8396Arg | |
| XM_006715420.2:c.25175A>G | XP_006715483.1:p.His8392Arg | |
| XM_006715421.2:c.25172A>G | XP_006715484.1:p.His8391Arg | |
| XM_006715423.2:c.25328A>G | XP_006715486.1:p.His8443Arg | |
| XM_006715424.2:c.25328A>G | XP_006715487.1:p.His8443Arg | |
| XM_006715425.2:c.25259A>G | XP_006715488.1:p.His8420Arg | |
| XM_011535641.2:c.25325A>G | XP_011533943.1:p.His8442Arg | |
| XM_011535642.2:c.25313A>G | XP_011533944.1:p.His8438Arg | |
| XM_011535645.2:c.23096A>G | XP_011533947.1:p.His7699Arg | |
| XM_017010608.1:c.25328A>G | XP_016866097.1:p.His8443Arg | |
| XM_017010609.1:c.25328A>G | XP_016866098.1:p.His8443Arg | |
| XM_017010610.1:c.25307A>G | XP_016866099.1:p.His8436Arg | |
| XM_017010611.2:c.25301A>G | XP_016866100.1:p.His8434Arg | |
| XM_017010612.1:c.25250A>G | XP_016866101.1:p.His8417Arg | |
| XM_017010613.1:c.25256A>G | XP_016866102.1:p.His8419Arg | |
| XM_017010614.1:c.25172A>G | XP_016866103.1:p.His8391Arg | |
| XM_017010615.1:c.25103A>G | XP_016866104.1:p.His8368Arg | |
| XM_017010616.1:c.25259A>G | XP_016866105.1:p.His8420Arg | |
| XM_017010617.1:c.25256A>G | XP_016866106.1:p.His8419Arg | |
| XM_017010618.1:c.25244A>G | XP_016866107.1:p.His8415Arg | |
| XM_017010619.1:c.23603A>G | XP_016866108.1:p.His7868Arg | |
| NM_182961.4:c.25223A>G MANE Select | NP_892006.3:p.His8408Arg | |
| NM_001347701.2:c.1829A>G | NP_001334630.1:p.His610Arg | |
| NM_001347702.2:c.1757A>G MANE Plus Clinical | NP_001334631.1:p.His586Arg | |
| NM_033071.5:c.25079A>G | NP_149062.2:p.His8360Arg |