Linked Data
ClinVar Variation Id:
141744
ClinVar RCV Id:
RCV000130375
RCV000218503
RCV000234009
RCV000410258
RCV000411419
RCV001030534
RCV001356230
RCV003315890
RCV003320104
dbSNP Id:
rs45468199
ExAC:
17:59793363 C / T
gnomAD v2:
17-59793363-C-T
gnomAD v4:
17-61716002-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61716002C>T , CM000679.2:g.61716002C>T | GRCh38 |
| NC_000017.10:g.59793363C>T , CM000679.1:g.59793363C>T | GRCh37 |
| NC_000017.9:g.57148145C>T | NCBI36 |
| NG_007409.2:g.152558G>A , LRG_300:g.152558G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2571G>A | ENSP00000507191.1:n.2571G>A | |
| ENST00000682073.1:n.1181G>A | ||
| ENST00000682433.1:n.1520G>A | ||
| ENST00000682453.1:c.2441G>A | ENSP00000506943.1:p.Arg814His | |
| ENST00000682477.1:c.*1867G>A | ENSP00000507075.1:n.*1867G>A | |
| ENST00000682589.1:n.8318G>A | ||
| ENST00000682755.1:c.2219G>A | ENSP00000507660.1:p.Arg740His | |
| ENST00000682989.1:c.2441G>A | ENSP00000507786.1:p.Arg814His | |
| ENST00000683039.1:c.2441G>A | ENSP00000508303.1:p.Arg814His | |
| ENST00000683235.1:c.2441G>A | ENSP00000507646.1:p.Arg814His | |
| ENST00000683535.1:n.571G>A | ||
| ENST00000684471.1:n.854G>A | ||
| ENST00000684584.1:c.1934G>A | ENSP00000508044.1:p.Arg645His | |
| ENST00000684626.1:n.770G>A | ||
| ENST00000684769.1:c.506G>A | ENSP00000507691.1:p.Arg169His | |
| ENST00000259008.7:c.2441G>A MANE Select | ENSP00000259008.2:p.Arg814His | |
| ENST00000259008.6:c.2441G>A | ENSP00000259008.2:p.Arg814His | |
| ENST00000577598.5:c.2441G>A | ENSP00000464654.1:p.Arg814His | |
| NM_032043.2:c.2441G>A , LRG_300t1:c.2441G>A | NP_114432.2:p.Arg814His | |
| XM_011525332.1:c.2501G>A | XP_011523634.1:p.Arg834His | |
| XM_011525333.1:c.2501G>A | XP_011523635.1:p.Arg834His | |
| XM_011525334.1:c.2501G>A | XP_011523636.1:p.Arg834His | |
| XM_011525335.1:c.2441G>A | XP_011523637.1:p.Arg814His | |
| XM_011525336.1:c.2381G>A | XP_011523638.1:p.Arg794His | |
| XM_011525337.1:c.2300G>A | XP_011523639.1:p.Arg767His | |
| XM_011525338.1:c.2018G>A | XP_011523640.1:p.Arg673His | |
| XM_011525339.1:c.*82G>A | XP_011523641.1:n.*82G>A | |
| XM_011525340.1:c.2501G>A | XP_011523642.1:p.Arg834His | |
| XM_011525332.3:c.2501G>A | XP_011523634.1:p.Arg834His | |
| XM_011525333.3:c.2501G>A | XP_011523635.1:p.Arg834His | |
| XM_011525334.2:c.2501G>A | XP_011523636.1:p.Arg834His | |
| XM_011525335.3:c.2441G>A | XP_011523637.1:p.Arg814His | |
| XM_011525336.2:c.2381G>A | XP_011523638.1:p.Arg794His | |
| XM_011525337.2:c.2300G>A | XP_011523639.1:p.Arg767His | |
| XM_011525338.2:c.2018G>A | XP_011523640.1:p.Arg673His | |
| XM_011525339.3:c.*82G>A | XP_011523641.1:n.*82G>A | |
| XM_011525340.3:c.2501G>A | XP_011523642.1:p.Arg834His | |
| XM_017025200.1:c.1958G>A | XP_016880689.1:p.Arg653His | |
| XM_017025201.1:c.1958G>A | XP_016880690.1:p.Arg653His | |
| XM_017025202.1:c.587G>A | XP_016880691.1:p.Arg196His | |
| XM_017025203.1:c.587G>A | XP_016880692.1:p.Arg196His | |
| NM_032043.3:c.2441G>A MANE Select | NP_114432.2:p.Arg814His |