Linked Data
ClinVar Variation Id:
133752
ClinVar RCV Id:
RCV000120396
RCV000123354
RCV000131414
RCV000488342
RCV000411134
RCV000778128
RCV000989999
RCV000409608
RCV001358098
RCV001798382
RCV003492522
dbSNP Id:
rs45589637
ExAC:
17:59821830 C / A
gnomAD v2:
17-59821830-C-A
gnomAD v3:
17-61744469-C-A
gnomAD v4:
17-61744469-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61744469C>A , CM000679.2:g.61744469C>A | GRCh38 |
| NC_000017.10:g.59821830C>A , CM000679.1:g.59821830C>A | GRCh37 |
| NC_000017.9:g.57176612C>A | NCBI36 |
| NG_007409.2:g.124091G>T , LRG_300:g.124091G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.1802G>T | ENSP00000463827.2:n.1802G>T | |
| ENST00000584322.2:c.2220G>T | ENSP00000463272.2:p.Gln740His | |
| ENST00000682066.1:c.2350G>T | ENSP00000507191.1:n.2350G>T | |
| ENST00000682073.1:n.960G>T | ||
| ENST00000682433.1:n.1299G>T | ||
| ENST00000682453.1:c.2220G>T | ENSP00000506943.1:p.Gln740His | |
| ENST00000682477.1:c.*1646G>T | ENSP00000507075.1:n.*1646G>T | |
| ENST00000682589.1:n.8097G>T | ||
| ENST00000682755.1:c.1998G>T | ENSP00000507660.1:p.Gln666His | |
| ENST00000682989.1:c.2220G>T | ENSP00000507786.1:p.Gln740His | |
| ENST00000683039.1:c.2220G>T | ENSP00000508303.1:p.Gln740His | |
| ENST00000683235.1:c.2220G>T | ENSP00000507646.1:p.Gln740His | |
| ENST00000683381.1:c.2280G>T | ENSP00000508184.1:p.Gln760His | |
| ENST00000683535.1:n.350G>T | ||
| ENST00000684471.1:n.633G>T | ||
| ENST00000684584.1:c.1713G>T | ENSP00000508044.1:p.Gln571His | |
| ENST00000684769.1:c.285G>T | ENSP00000507691.1:p.Gln95His | |
| ENST00000259008.7:c.2220G>T MANE Select | ENSP00000259008.2:p.Gln740His | |
| ENST00000259008.6:c.2220G>T | ENSP00000259008.2:p.Gln740His | |
| ENST00000577598.5:c.2220G>T | ENSP00000464654.1:p.Gln740His | |
| ENST00000584322.1:c.203G>T | ||
| NM_032043.2:c.2220G>T , LRG_300t1:c.2220G>T | NP_114432.2:p.Gln740His | |
| XM_011525332.1:c.2280G>T | XP_011523634.1:p.Gln760His | |
| XM_011525333.1:c.2280G>T | XP_011523635.1:p.Gln760His | |
| XM_011525334.1:c.2280G>T | XP_011523636.1:p.Gln760His | |
| XM_011525335.1:c.2220G>T | XP_011523637.1:p.Gln740His | |
| XM_011525336.1:c.2160G>T | XP_011523638.1:p.Gln720His | |
| XM_011525337.1:c.2079G>T | XP_011523639.1:p.Gln693His | |
| XM_011525338.1:c.1797G>T | XP_011523640.1:p.Gln599His | |
| XM_011525339.1:c.2280G>T | XP_011523641.1:p.Gln760His | |
| XM_011525340.1:c.2280G>T | XP_011523642.1:p.Gln760His | |
| XM_011525332.3:c.2280G>T | XP_011523634.1:p.Gln760His | |
| XM_011525333.3:c.2280G>T | XP_011523635.1:p.Gln760His | |
| XM_011525334.2:c.2280G>T | XP_011523636.1:p.Gln760His | |
| XM_011525335.3:c.2220G>T | XP_011523637.1:p.Gln740His | |
| XM_011525336.2:c.2160G>T | XP_011523638.1:p.Gln720His | |
| XM_011525337.2:c.2079G>T | XP_011523639.1:p.Gln693His | |
| XM_011525338.2:c.1797G>T | XP_011523640.1:p.Gln599His | |
| XM_011525339.3:c.2280G>T | XP_011523641.1:p.Gln760His | |
| XM_011525340.3:c.2280G>T | XP_011523642.1:p.Gln760His | |
| XM_017025200.1:c.1737G>T | XP_016880689.1:p.Gln579His | |
| XM_017025201.1:c.1737G>T | XP_016880690.1:p.Gln579His | |
| XM_017025202.1:c.366G>T | XP_016880691.1:p.Gln122His | |
| XM_017025203.1:c.366G>T | XP_016880692.1:p.Gln122His | |
| NM_032043.3:c.2220G>T MANE Select | NP_114432.2:p.Gln740His |