Linked Data
ClinVar Variation Id:
142595
dbSNP Id:
rs587782574
ExAC:
17:59820376 G / A
gnomAD v2:
17-59820376-G-A
gnomAD v3:
17-61743015-G-A
gnomAD v4:
17-61743015-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61743015G>A , CM000679.2:g.61743015G>A | GRCh38 |
| NC_000017.10:g.59820376G>A , CM000679.1:g.59820376G>A | GRCh37 |
| NC_000017.9:g.57175158G>A | NCBI36 |
| NG_007409.2:g.125545C>T , LRG_300:g.125545C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584322.2:c.2377C>T | ENSP00000463272.2:p.Gln793Ter | |
| ENST00000682066.1:c.2507C>T | ENSP00000507191.1:n.2507C>T | |
| ENST00000682073.1:n.1117C>T | ||
| ENST00000682433.1:n.1456C>T | ||
| ENST00000682453.1:c.2377C>T | ENSP00000506943.1:p.Gln793Ter | |
| ENST00000682477.1:c.*1803C>T | ENSP00000507075.1:n.*1803C>T | |
| ENST00000682589.1:n.8254C>T | ||
| ENST00000682755.1:c.2155C>T | ENSP00000507660.1:p.Gln719Ter | |
| ENST00000682989.1:c.2377C>T | ENSP00000507786.1:p.Gln793Ter | |
| ENST00000683039.1:c.2377C>T | ENSP00000508303.1:p.Gln793Ter | |
| ENST00000683235.1:c.2377C>T | ENSP00000507646.1:p.Gln793Ter | |
| ENST00000683381.1:c.2437C>T | ENSP00000508184.1:p.Gln813Ter | |
| ENST00000683535.1:n.507C>T | ||
| ENST00000684471.1:n.790C>T | ||
| ENST00000684584.1:c.1870C>T | ENSP00000508044.1:p.Gln624Ter | |
| ENST00000684769.1:c.442C>T | ENSP00000507691.1:p.Gln148Ter | |
| ENST00000259008.7:c.2377C>T MANE Select | ENSP00000259008.2:p.Gln793Ter | |
| ENST00000259008.6:c.2377C>T | ENSP00000259008.2:p.Gln793Ter | |
| ENST00000577598.5:c.2377C>T | ENSP00000464654.1:p.Gln793Ter | |
| ENST00000584322.1:c.360C>T | ||
| NM_032043.2:c.2377C>T , LRG_300t1:c.2377C>T | NP_114432.2:p.Gln793Ter | |
| XM_011525332.1:c.2437C>T | XP_011523634.1:p.Gln813Ter | |
| XM_011525333.1:c.2437C>T | XP_011523635.1:p.Gln813Ter | |
| XM_011525334.1:c.2437C>T | XP_011523636.1:p.Gln813Ter | |
| XM_011525335.1:c.2377C>T | XP_011523637.1:p.Gln793Ter | |
| XM_011525336.1:c.2317C>T | XP_011523638.1:p.Gln773Ter | |
| XM_011525337.1:c.2236C>T | XP_011523639.1:p.Gln746Ter | |
| XM_011525338.1:c.1954C>T | XP_011523640.1:p.Gln652Ter | |
| XM_011525339.1:c.2437C>T | XP_011523641.1:p.Gln813Ter | |
| XM_011525340.1:c.2437C>T | XP_011523642.1:p.Gln813Ter | |
| XR_934894.1:n.524-1166G>A | ||
| XM_011525332.3:c.2437C>T | XP_011523634.1:p.Gln813Ter | |
| XM_011525333.3:c.2437C>T | XP_011523635.1:p.Gln813Ter | |
| XM_011525334.2:c.2437C>T | XP_011523636.1:p.Gln813Ter | |
| XM_011525335.3:c.2377C>T | XP_011523637.1:p.Gln793Ter | |
| XM_011525336.2:c.2317C>T | XP_011523638.1:p.Gln773Ter | |
| XM_011525337.2:c.2236C>T | XP_011523639.1:p.Gln746Ter | |
| XM_011525338.2:c.1954C>T | XP_011523640.1:p.Gln652Ter | |
| XM_011525339.3:c.2437C>T | XP_011523641.1:p.Gln813Ter | |
| XM_011525340.3:c.2437C>T | XP_011523642.1:p.Gln813Ter | |
| XM_017025200.1:c.1894C>T | XP_016880689.1:p.Gln632Ter | |
| XM_017025201.1:c.1894C>T | XP_016880690.1:p.Gln632Ter | |
| XM_017025202.1:c.523C>T | XP_016880691.1:p.Gln175Ter | |
| XM_017025203.1:c.523C>T | XP_016880692.1:p.Gln175Ter | |
| NM_032043.3:c.2377C>T MANE Select | NP_114432.2:p.Gln793Ter |