Linked Data
ClinVar Variation Id:
2332
dbSNP Id:
rs119103246
gnomAD v2:
6-152473122-C-T
gnomAD v4:
6-152151987-C-T
PubMed:
PMID:17761684
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152151987C>T , CM000668.2:g.152151987C>T | GRCh38 |
| NC_000006.11:g.152473122C>T , CM000668.1:g.152473122C>T | GRCh37 |
| NC_000006.10:g.152514815C>T | NCBI36 |
| NG_012855.1:g.490413G>A | |
| NG_012855.2:g.490413G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.749G>A MANE Plus Clinical | ENSP00000346701.4:p.Arg250His | |
| ENST00000367255.10:c.24284G>A MANE Select | ENSP00000356224.5:p.Arg8095His | |
| ENST00000423061.6:c.24071G>A | ENSP00000396024.1:p.Arg8024His | |
| ENST00000672169.1:c.19G>A | ||
| ENST00000673173.1:c.198G>A | ||
| ENST00000673451.1:c.56G>A | ENSP00000500189.1:p.Arg19His | |
| ENST00000341594.9:c.23069G>A | ENSP00000341887.6:p.Arg7690His | |
| ENST00000347037.9:n.963G>A | ||
| ENST00000354674.4:c.749G>A | ENSP00000346701.4:p.Arg250His | |
| ENST00000367251.7:c.3050G>A | ENSP00000356220.3:p.Arg1017His | |
| ENST00000367255.9:c.24284G>A | ENSP00000356224.5:p.Arg8095His | |
| ENST00000367256.9:n.7976G>A | ||
| ENST00000367257.8:c.2222G>A | ENSP00000356226.4:p.Arg741His | |
| ENST00000409694.6:n.7868G>A | ||
| ENST00000423061.5:c.24071G>A | ENSP00000396024.1:p.Arg8024His | |
| ENST00000460912.6:n.829G>A | ||
| ENST00000476519.1:n.346G>A | ||
| ENST00000536990.5:n.1121G>A | ||
| ENST00000539504.5:c.749G>A | ENSP00000441052.1:p.Arg250His | |
| NM_033071.3:c.24071G>A | NP_149062.1:p.Arg8024His | |
| NM_182961.3:c.24284G>A | NP_892006.3:p.Arg8095His | |
| XM_006715407.1:c.24320G>A | XP_006715470.1:p.Arg8107His | |
| XM_006715408.1:c.24308G>A | XP_006715471.1:p.Arg8103His | |
| XM_006715409.1:c.24299G>A | XP_006715472.1:p.Arg8100His | |
| XM_006715410.1:c.24320G>A | XP_006715473.1:p.Arg8107His | |
| XM_006715411.1:c.24269G>A | XP_006715474.1:p.Arg8090His | |
| XM_006715412.1:c.24305G>A | XP_006715475.1:p.Arg8102His | |
| XM_006715413.1:c.24320G>A | XP_006715476.1:p.Arg8107His | |
| XM_006715414.1:c.24248G>A | XP_006715477.1:p.Arg8083His | |
| XM_006715415.1:c.24320G>A | XP_006715478.1:p.Arg8107His | |
| XM_006715416.1:c.24305G>A | XP_006715479.1:p.Arg8102His | |
| XM_006715417.1:c.24179G>A | XP_006715480.1:p.Arg8060His | |
| XM_006715420.1:c.24167G>A | XP_006715483.1:p.Arg8056His | |
| XM_006715421.1:c.24164G>A | XP_006715484.1:p.Arg8055His | |
| XM_006715422.1:c.24161G>A | XP_006715485.1:p.Arg8054His | |
| XM_006715423.1:c.24320G>A | XP_006715486.1:p.Arg8107His | |
| XM_006715424.1:c.24320G>A | XP_006715487.1:p.Arg8107His | |
| XM_006715425.1:c.24320G>A | XP_006715488.1:p.Arg8107His | |
| XM_011535641.1:c.24317G>A | XP_011533943.1:p.Arg8106His | |
| XM_011535642.1:c.24305G>A | XP_011533944.1:p.Arg8102His | |
| XM_011535643.1:c.24155G>A | XP_011533945.1:p.Arg8052His | |
| XM_011535644.1:c.22595G>A | XP_011533946.1:p.Arg7532His | |
| XM_011535645.1:c.22088G>A | XP_011533947.1:p.Arg7363His | |
| XM_011535647.1:c.17555G>A | XP_011533949.1:p.Arg5852His | |
| NM_001347701.1:c.890G>A | NP_001334630.1:p.Arg297His | |
| NM_001347702.1:c.749G>A | NP_001334631.1:p.Arg250His | |
| XM_006715408.2:c.24308G>A | XP_006715471.1:p.Arg8103His | |
| XM_006715410.2:c.24320G>A | XP_006715473.1:p.Arg8107His | |
| XM_006715412.2:c.24305G>A | XP_006715475.1:p.Arg8102His | |
| XM_006715413.2:c.24320G>A | XP_006715476.1:p.Arg8107His | |
| XM_006715415.2:c.24320G>A | XP_006715478.1:p.Arg8107His | |
| XM_006715416.2:c.24305G>A | XP_006715479.1:p.Arg8102His | |
| XM_006715417.2:c.24179G>A | XP_006715480.1:p.Arg8060His | |
| XM_006715420.2:c.24167G>A | XP_006715483.1:p.Arg8056His | |
| XM_006715421.2:c.24164G>A | XP_006715484.1:p.Arg8055His | |
| XM_006715423.2:c.24320G>A | XP_006715486.1:p.Arg8107His | |
| XM_006715424.2:c.24320G>A | XP_006715487.1:p.Arg8107His | |
| XM_006715425.2:c.24320G>A | XP_006715488.1:p.Arg8107His | |
| XM_011535641.2:c.24317G>A | XP_011533943.1:p.Arg8106His | |
| XM_011535642.2:c.24305G>A | XP_011533944.1:p.Arg8102His | |
| XM_011535645.2:c.22088G>A | XP_011533947.1:p.Arg7363His | |
| XM_017010608.1:c.24320G>A | XP_016866097.1:p.Arg8107His | |
| XM_017010609.1:c.24320G>A | XP_016866098.1:p.Arg8107His | |
| XM_017010610.1:c.24299G>A | XP_016866099.1:p.Arg8100His | |
| XM_017010611.2:c.24293G>A | XP_016866100.1:p.Arg8098His | |
| XM_017010612.1:c.24242G>A | XP_016866101.1:p.Arg8081His | |
| XM_017010613.1:c.24317G>A | XP_016866102.1:p.Arg8106His | |
| XM_017010614.1:c.24164G>A | XP_016866103.1:p.Arg8055His | |
| XM_017010615.1:c.24164G>A | XP_016866104.1:p.Arg8055His | |
| XM_017010616.1:c.24320G>A | XP_016866105.1:p.Arg8107His | |
| XM_017010617.1:c.24317G>A | XP_016866106.1:p.Arg8106His | |
| XM_017010618.1:c.24305G>A | XP_016866107.1:p.Arg8102His | |
| XM_017010619.1:c.22595G>A | XP_016866108.1:p.Arg7532His | |
| NM_182961.4:c.24284G>A MANE Select | NP_892006.3:p.Arg8095His | |
| NM_001347701.2:c.890G>A | NP_001334630.1:p.Arg297His | |
| NM_001347702.2:c.749G>A MANE Plus Clinical | NP_001334631.1:p.Arg250His | |
| NM_033071.5:c.24071G>A | NP_149062.2:p.Arg8024His |