Linked Data
ClinVar Variation Id:
920843
ClinVar RCV Id:
RCV001179892
dbSNP Id:
rs2061302714
gnomAD v4:
17-61683498-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683498C>G , CM000679.2:g.61683498C>G | GRCh38 |
| NC_000017.10:g.59760859C>G , CM000679.1:g.59760859C>G | GRCh37 |
| NC_000017.9:g.57115641C>G | NCBI36 |
| NG_007409.2:g.185062G>C , LRG_300:g.185062G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2288G>C | ||
| ENST00000682453.1:c.3548G>C | ENSP00000506943.1:p.Arg1183Thr | |
| ENST00000682477.1:c.*2974G>C | ENSP00000507075.1:n.*2974G>C | |
| ENST00000682589.1:n.9425G>C | ||
| ENST00000682755.1:c.3326G>C | ENSP00000507660.1:p.Arg1109Thr | |
| ENST00000682989.1:c.*639G>C | ENSP00000507786.1:n.*639G>C | |
| ENST00000683039.1:c.3548G>C | ENSP00000508303.1:p.Arg1183Thr | |
| ENST00000683235.1:c.*963G>C | ENSP00000507646.1:n.*963G>C | |
| ENST00000683535.1:n.1678G>C | ||
| ENST00000684584.1:c.2711G>C | ENSP00000508044.1:p.Arg904Thr | |
| ENST00000684626.1:n.1794G>C | ||
| ENST00000684769.1:c.1738G>C | ENSP00000507691.1:n.1738G>C | |
| ENST00000259008.7:c.3548G>C MANE Select | ENSP00000259008.2:p.Arg1183Thr | |
| ENST00000259008.6:c.3548G>C | ENSP00000259008.2:p.Arg1183Thr | |
| NM_032043.2:c.3548G>C , LRG_300t1:c.3548G>C | NP_114432.2:p.Arg1183Thr | |
| XM_011525332.1:c.3608G>C | XP_011523634.1:p.Arg1203Thr | |
| XM_011525333.1:c.3608G>C | XP_011523635.1:p.Arg1203Thr | |
| XM_011525334.1:c.3608G>C | XP_011523636.1:p.Arg1203Thr | |
| XM_011525335.1:c.3548G>C | XP_011523637.1:p.Arg1183Thr | |
| XM_011525336.1:c.3488G>C | XP_011523638.1:p.Arg1163Thr | |
| XM_011525337.1:c.3407G>C | XP_011523639.1:p.Arg1136Thr | |
| XM_011525338.1:c.3125G>C | XP_011523640.1:p.Arg1042Thr | |
| XM_011525332.3:c.3608G>C | XP_011523634.1:p.Arg1203Thr | |
| XM_011525333.3:c.3608G>C | XP_011523635.1:p.Arg1203Thr | |
| XM_011525334.2:c.3608G>C | XP_011523636.1:p.Arg1203Thr | |
| XM_011525335.3:c.3548G>C | XP_011523637.1:p.Arg1183Thr | |
| XM_011525336.2:c.3488G>C | XP_011523638.1:p.Arg1163Thr | |
| XM_011525337.2:c.3407G>C | XP_011523639.1:p.Arg1136Thr | |
| XM_011525338.2:c.3125G>C | XP_011523640.1:p.Arg1042Thr | |
| XM_017025200.1:c.3065G>C | XP_016880689.1:p.Arg1022Thr | |
| XM_017025201.1:c.3065G>C | XP_016880690.1:p.Arg1022Thr | |
| XM_017025202.1:c.1694G>C | XP_016880691.1:p.Arg565Thr | |
| XM_017025203.1:c.1694G>C | XP_016880692.1:p.Arg565Thr | |
| NM_032043.3:c.3548G>C MANE Select | NP_114432.2:p.Arg1183Thr |