Linked Data
ClinVar Variation Id:
141499
ClinVar RCV Id:
RCV000130056
RCV000699539
RCV000663220
RCV001194712
RCV001255230
RCV002273958
RCV003460909
dbSNP Id:
rs374334794
gnomAD v2:
17-59770823-C-T
gnomAD v3:
17-61693462-C-T
gnomAD v4:
17-61693462-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61693462C>T , CM000679.2:g.61693462C>T | GRCh38 |
| NC_000017.10:g.59770823C>T , CM000679.1:g.59770823C>T | GRCh37 |
| NC_000017.9:g.57125605C>T | NCBI36 |
| NG_007409.2:g.175098G>A , LRG_300:g.175098G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2673G>A | ENSP00000507191.1:n.2673G>A | |
| ENST00000682073.1:n.1283G>A | ||
| ENST00000682433.1:n.1622G>A | ||
| ENST00000682453.1:c.2543G>A | ENSP00000506943.1:p.Arg848His | |
| ENST00000682477.1:c.*1969G>A | ENSP00000507075.1:n.*1969G>A | |
| ENST00000682589.1:n.8420G>A | ||
| ENST00000682755.1:c.2321G>A | ENSP00000507660.1:p.Arg774His | |
| ENST00000682989.1:c.2493-4990G>A | ENSP00000507786.1:n.2493-4990G>A | |
| ENST00000683039.1:c.2543G>A | ENSP00000508303.1:p.Arg848His | |
| ENST00000683235.1:c.2493-7297G>A | ENSP00000507646.1:n.2493-7297G>A | |
| ENST00000683535.1:n.673G>A | ||
| ENST00000684471.1:n.956G>A | ||
| ENST00000684584.1:c.2036G>A | ENSP00000508044.1:p.Arg679His | |
| ENST00000684626.1:n.822-7297G>A | ||
| ENST00000684769.1:c.608G>A | ENSP00000507691.1:p.Arg203His | |
| ENST00000259008.7:c.2543G>A MANE Select | ENSP00000259008.2:p.Arg848His | |
| ENST00000259008.6:c.2543G>A | ENSP00000259008.2:p.Arg848His | |
| ENST00000577598.5:c.2543G>A | ENSP00000464654.1:p.Arg848His | |
| NM_032043.2:c.2543G>A , LRG_300t1:c.2543G>A | NP_114432.2:p.Arg848His | |
| XM_011525332.1:c.2603G>A | XP_011523634.1:p.Arg868His | |
| XM_011525333.1:c.2603G>A | XP_011523635.1:p.Arg868His | |
| XM_011525334.1:c.2603G>A | XP_011523636.1:p.Arg868His | |
| XM_011525335.1:c.2543G>A | XP_011523637.1:p.Arg848His | |
| XM_011525336.1:c.2483G>A | XP_011523638.1:p.Arg828His | |
| XM_011525337.1:c.2402G>A | XP_011523639.1:p.Arg801His | |
| XM_011525338.1:c.2120G>A | XP_011523640.1:p.Arg707His | |
| XM_011525340.1:c.2553-7297G>A | XP_011523642.1:n.2553-7297G>A | |
| XM_011525332.3:c.2603G>A | XP_011523634.1:p.Arg868His | |
| XM_011525333.3:c.2603G>A | XP_011523635.1:p.Arg868His | |
| XM_011525334.2:c.2603G>A | XP_011523636.1:p.Arg868His | |
| XM_011525335.3:c.2543G>A | XP_011523637.1:p.Arg848His | |
| XM_011525336.2:c.2483G>A | XP_011523638.1:p.Arg828His | |
| XM_011525337.2:c.2402G>A | XP_011523639.1:p.Arg801His | |
| XM_011525338.2:c.2120G>A | XP_011523640.1:p.Arg707His | |
| XM_011525340.3:c.2553-7297G>A | XP_011523642.1:n.2553-7297G>A | |
| XM_017025200.1:c.2060G>A | XP_016880689.1:p.Arg687His | |
| XM_017025201.1:c.2060G>A | XP_016880690.1:p.Arg687His | |
| XM_017025202.1:c.689G>A | XP_016880691.1:p.Arg230His | |
| XM_017025203.1:c.689G>A | XP_016880692.1:p.Arg230His | |
| NM_032043.3:c.2543G>A MANE Select | NP_114432.2:p.Arg848His |