Linked Data
ClinVar Variation Id:
224859
dbSNP Id:
rs112384084
ExAC:
3:195594494 C / T
gnomAD v2:
3-195594494-C-T
gnomAD v3:
3-195867623-C-T
gnomAD v4:
3-195867623-C-T
PubMed:
PMID:26595808
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.195867623C>T , CM000665.2:g.195867623C>T | GRCh38 |
| NC_000003.11:g.195594494C>T , CM000665.1:g.195594494C>T | GRCh37 |
| NC_000003.10:g.197078891C>T | NCBI36 |
| NG_029779.1:g.46387G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000672887.2:c.2675G>A MANE Select | ENSP00000499899.1:p.Arg892His | |
| ENST00000333602.14:c.2630G>A | ENSP00000329425.6:p.Arg877His | |
| ENST00000381916.7:c.2864G>A | ENSP00000371341.2:p.Arg955His | |
| ENST00000428187.7:c.2726G>A | ENSP00000392546.1:p.Arg909His | |
| ENST00000671753.1:c.2747G>A | ENSP00000499858.1:p.Arg916His | |
| ENST00000672024.1:c.2630G>A | ENSP00000500486.1:p.Arg877His | |
| ENST00000672548.1:c.1160G>A | ENSP00000500238.1:p.Arg387His | |
| ENST00000672887.1:c.2675G>A | ENSP00000499899.1:p.Arg892His | |
| ENST00000673038.1:c.2726G>A | ENSP00000500452.1:p.Arg909His | |
| ENST00000673236.1:n.2068G>A | ||
| ENST00000673420.1:c.2630G>A | ENSP00000500887.1:p.Arg877His | |
| ENST00000678220.1:c.2726G>A | ENSP00000503221.1:p.Arg909His | |
| ENST00000333602.10:c.2630G>A | ENSP00000329425.6:p.Arg877His | |
| ENST00000381916.6:c.2864G>A | ENSP00000371341.2:p.Arg955His | |
| ENST00000416152.5:c.1331G>A | ENSP00000398614.1:p.Arg444His | |
| ENST00000420716.2:n.2068G>A | ||
| ENST00000428187.5:c.2726G>A | ENSP00000392546.1:p.Arg909His | |
| NM_001010938.1:c.2864G>A | NP_001010938.1:p.Arg955His | |
| NM_001308046.1:c.2726G>A | NP_001294975.1:p.Arg909His | |
| NM_005781.4:c.2630G>A | NP_005772.3:p.Arg877His | |
| XM_005269268.3:c.2864G>A | XP_005269325.1:p.Arg955His | |
| XM_005269270.3:c.2675G>A | XP_005269327.1:p.Arg892His | |
| XM_005269274.3:c.1958G>A | XP_005269331.1:p.Arg653His | |
| XM_005269275.3:c.1733G>A | XP_005269332.1:p.Arg578His | |
| XM_011512317.1:c.3167G>A | XP_011510619.1:p.Arg1056His | |
| XM_011512318.1:c.2675G>A | XP_011510620.1:p.Arg892His | |
| XM_011512319.1:c.2630G>A | XP_011510621.1:p.Arg877His | |
| XM_011512320.1:c.2675G>A | XP_011510622.1:p.Arg892His | |
| XM_011512321.1:c.2447G>A | XP_011510623.1:p.Arg816His | |
| XM_011512317.3:c.3167G>A | XP_011510619.1:p.Arg1056His | |
| XM_011512318.2:c.2771G>A | XP_011510620.2:p.Arg924His | |
| XM_011512321.2:c.2447G>A | XP_011510623.1:p.Arg816His | |
| XM_017005508.1:c.2726G>A | XP_016860997.1:p.Arg909His | |
| XM_017005509.1:c.2726G>A | XP_016860998.1:p.Arg909His | |
| XM_017005510.1:c.2771G>A | XP_016860999.1:p.Arg924His | |
| XM_024453291.1:c.2867G>A | XP_024309059.1:p.Arg956His | |
| XM_024453292.1:c.2726G>A | XP_024309060.1:p.Arg909His | |
| XM_024453293.1:c.2675G>A | XP_024309061.1:p.Arg892His | |
| XM_024453294.1:c.2675G>A | XP_024309062.1:p.Arg892His | |
| XM_024453295.1:c.2675G>A | XP_024309063.1:p.Arg892His | |
| NM_001010938.2:c.2747G>A | NP_001010938.2:p.Arg916His | |
| NM_001308046.2:c.2726G>A | NP_001294975.1:p.Arg909His | |
| NM_001382271.1:c.2726G>A | NP_001369200.1:p.Arg909His | |
| NM_001382272.1:c.2747G>A | NP_001369201.1:p.Arg916His | |
| NM_001382273.1:c.2675G>A MANE Select | NP_001369202.1:p.Arg892His | |
| NM_001382274.1:c.2675G>A | NP_001369203.1:p.Arg892His | |
| NM_001382275.1:c.2771G>A | NP_001369204.1:p.Arg924His | |
| NM_001386164.1:c.2630G>A | NP_001373093.1:p.Arg877His | |
| NM_001387707.1:c.2771G>A | NP_001374636.1:p.Arg924His | |
| NM_001387708.1:c.2702G>A | NP_001374637.1:p.Arg901His | |
| NM_001387709.1:c.2630G>A | NP_001374638.1:p.Arg877His | |
| NM_001387710.1:c.2630G>A | NP_001374639.1:p.Arg877His | |
| NM_001387711.1:c.2630G>A | NP_001374640.1:p.Arg877His | |
| NM_001387712.1:c.2630G>A | NP_001374641.1:p.Arg877His | |
| NM_001387713.1:c.2630G>A | NP_001374642.1:p.Arg877His | |
| NM_001387714.1:c.2630G>A | NP_001374643.1:p.Arg877His | |
| NM_001387715.1:c.2702G>A | NP_001374644.1:p.Arg901His | |
| NM_001387716.1:c.2675G>A | NP_001374645.1:p.Arg892His | |
| NM_001387717.1:c.2675G>A | NP_001374646.1:p.Arg892His | |
| NM_001387718.1:c.2675G>A | NP_001374647.1:p.Arg892His | |
| NM_001387719.1:c.2630G>A | NP_001374648.1:p.Arg877His | |
| NM_001387720.1:c.2630G>A | NP_001374649.1:p.Arg877His | |
| NM_001387721.1:c.2630G>A | NP_001374650.1:p.Arg877His | |
| NM_005781.5:c.2630G>A | NP_005772.3:p.Arg877His | |
| NR_170678.1:n.2922G>A | ||
| NR_170679.1:n.3226G>A | ||
| NR_170680.1:n.2933G>A | ||
| NR_170681.1:n.2888G>A | ||
| NR_170682.1:n.3200G>A | ||
| NR_170683.1:n.3155G>A | ||
| NR_170684.1:n.2568G>A | ||
| NR_170685.1:n.3071G>A | ||
| NR_170686.1:n.2939G>A | ||
| NR_170687.1:n.2914G>A | ||
| NR_170688.1:n.3155G>A | ||
| NR_170689.1:n.2669G>A | ||
| NR_170690.1:n.2480G>A | ||
| NR_170691.1:n.2827G>A | ||
| NR_170692.1:n.2437G>A |