Linked Data
ClinVar Variation Id:
183819
dbSNP Id:
rs113697814
ExAC:
17:59763209 T / G
gnomAD v2:
17-59763209-T-G
gnomAD v3:
17-61685848-T-G
gnomAD v4:
17-61685848-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61685848T>G , CM000679.2:g.61685848T>G | GRCh38 |
| NC_000017.10:g.59763209T>G , CM000679.1:g.59763209T>G | GRCh37 |
| NC_000017.9:g.57117991T>G | NCBI36 |
| NG_007409.2:g.182712A>C , LRG_300:g.182712A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.3023A>C | ENSP00000507191.1:n.3023A>C | |
| ENST00000682073.1:n.1633A>C | ||
| ENST00000682433.1:n.1972A>C | ||
| ENST00000682453.1:c.2893A>C | ENSP00000506943.1:p.Arg965= | |
| ENST00000682477.1:c.*2319A>C | ENSP00000507075.1:n.*2319A>C | |
| ENST00000682589.1:n.8770A>C | ||
| ENST00000682755.1:c.2671A>C | ENSP00000507660.1:p.Arg891= | |
| ENST00000682989.1:c.2610-1708A>C | ENSP00000507786.1:n.2610-1708A>C | |
| ENST00000683039.1:c.2893A>C | ENSP00000508303.1:p.Arg965= | |
| ENST00000683235.1:c.*308A>C | ENSP00000507646.1:n.*308A>C | |
| ENST00000683535.1:n.1023A>C | ||
| ENST00000684471.1:n.1306A>C | ||
| ENST00000684584.1:c.2069-1708A>C | ENSP00000508044.1:n.2069-1708A>C | |
| ENST00000684626.1:n.1139A>C | ||
| ENST00000684769.1:c.1083A>C | ENSP00000507691.1:n.1083A>C | |
| ENST00000259008.7:c.2893A>C MANE Select | ENSP00000259008.2:p.Arg965= | |
| ENST00000259008.6:c.2893A>C | ENSP00000259008.2:p.Arg965= | |
| ENST00000577598.5:c.2893A>C | ENSP00000464654.1:p.Arg965= | |
| NM_032043.2:c.2893A>C , LRG_300t1:c.2893A>C | NP_114432.2:p.Arg965= | |
| XM_011525332.1:c.2953A>C | XP_011523634.1:p.Arg985= | |
| XM_011525333.1:c.2953A>C | XP_011523635.1:p.Arg985= | |
| XM_011525334.1:c.2953A>C | XP_011523636.1:p.Arg985= | |
| XM_011525335.1:c.2893A>C | XP_011523637.1:p.Arg965= | |
| XM_011525336.1:c.2833A>C | XP_011523638.1:p.Arg945= | |
| XM_011525337.1:c.2752A>C | XP_011523639.1:p.Arg918= | |
| XM_011525338.1:c.2470A>C | XP_011523640.1:p.Arg824= | |
| XM_011525332.3:c.2953A>C | XP_011523634.1:p.Arg985= | |
| XM_011525333.3:c.2953A>C | XP_011523635.1:p.Arg985= | |
| XM_011525334.2:c.2953A>C | XP_011523636.1:p.Arg985= | |
| XM_011525335.3:c.2893A>C | XP_011523637.1:p.Arg965= | |
| XM_011525336.2:c.2833A>C | XP_011523638.1:p.Arg945= | |
| XM_011525337.2:c.2752A>C | XP_011523639.1:p.Arg918= | |
| XM_011525338.2:c.2470A>C | XP_011523640.1:p.Arg824= | |
| XM_017025200.1:c.2410A>C | XP_016880689.1:p.Arg804= | |
| XM_017025201.1:c.2410A>C | XP_016880690.1:p.Arg804= | |
| XM_017025202.1:c.1039A>C | XP_016880691.1:p.Arg347= | |
| XM_017025203.1:c.1039A>C | XP_016880692.1:p.Arg347= | |
| NM_032043.3:c.2893A>C MANE Select | NP_114432.2:p.Arg965= |