Linked Data
dbSNP Id:
rs2144072484
gnomAD v4:
17-61683506-A-G
MyVariant Identifiers:
chr17:g.59760867A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683506A>G , CM000679.2:g.61683506A>G | GRCh38 |
| NC_000017.10:g.59760867A>G , CM000679.1:g.59760867A>G | GRCh37 |
| NC_000017.9:g.57115649A>G | NCBI36 |
| NG_007409.2:g.185054T>C , LRG_300:g.185054T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2280T>C | ||
| ENST00000682453.1:c.3540T>C | ENSP00000506943.1:p.Asp1180= | |
| ENST00000682477.1:c.*2966T>C | ENSP00000507075.1:n.*2966T>C | |
| ENST00000682589.1:n.9417T>C | ||
| ENST00000682755.1:c.3318T>C | ENSP00000507660.1:p.Asp1106= | |
| ENST00000682989.1:c.*631T>C | ENSP00000507786.1:n.*631T>C | |
| ENST00000683039.1:c.3540T>C | ENSP00000508303.1:p.Asp1180= | |
| ENST00000683235.1:c.*955T>C | ENSP00000507646.1:n.*955T>C | |
| ENST00000683535.1:n.1670T>C | ||
| ENST00000684584.1:c.2703T>C | ENSP00000508044.1:p.Asp901= | |
| ENST00000684626.1:n.1786T>C | ||
| ENST00000684769.1:c.1730T>C | ENSP00000507691.1:n.1730T>C | |
| ENST00000259008.7:c.3540T>C MANE Select | ENSP00000259008.2:p.Asp1180= | |
| ENST00000259008.6:c.3540T>C | ENSP00000259008.2:p.Asp1180= | |
| NM_032043.2:c.3540T>C , LRG_300t1:c.3540T>C | NP_114432.2:p.Asp1180= | |
| XM_011525332.1:c.3600T>C | XP_011523634.1:p.Asp1200= | |
| XM_011525333.1:c.3600T>C | XP_011523635.1:p.Asp1200= | |
| XM_011525334.1:c.3600T>C | XP_011523636.1:p.Asp1200= | |
| XM_011525335.1:c.3540T>C | XP_011523637.1:p.Asp1180= | |
| XM_011525336.1:c.3480T>C | XP_011523638.1:p.Asp1160= | |
| XM_011525337.1:c.3399T>C | XP_011523639.1:p.Asp1133= | |
| XM_011525338.1:c.3117T>C | XP_011523640.1:p.Asp1039= | |
| XM_011525332.3:c.3600T>C | XP_011523634.1:p.Asp1200= | |
| XM_011525333.3:c.3600T>C | XP_011523635.1:p.Asp1200= | |
| XM_011525334.2:c.3600T>C | XP_011523636.1:p.Asp1200= | |
| XM_011525335.3:c.3540T>C | XP_011523637.1:p.Asp1180= | |
| XM_011525336.2:c.3480T>C | XP_011523638.1:p.Asp1160= | |
| XM_011525337.2:c.3399T>C | XP_011523639.1:p.Asp1133= | |
| XM_011525338.2:c.3117T>C | XP_011523640.1:p.Asp1039= | |
| XM_017025200.1:c.3057T>C | XP_016880689.1:p.Asp1019= | |
| XM_017025201.1:c.3057T>C | XP_016880690.1:p.Asp1019= | |
| XM_017025202.1:c.1686T>C | XP_016880691.1:p.Asp562= | |
| XM_017025203.1:c.1686T>C | XP_016880692.1:p.Asp562= | |
| NM_032043.3:c.3540T>C MANE Select | NP_114432.2:p.Asp1180= |