Linked Data
ClinVar Variation Id:
439028
dbSNP Id:
rs749589266
ExAC:
17:59760904 T / G
gnomAD v2:
17-59760904-T-G
gnomAD v4:
17-61683543-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683543T>G , CM000679.2:g.61683543T>G | GRCh38 |
| NC_000017.10:g.59760904T>G , CM000679.1:g.59760904T>G | GRCh37 |
| NC_000017.9:g.57115686T>G | NCBI36 |
| NG_007409.2:g.185017A>C , LRG_300:g.185017A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2243A>C | ||
| ENST00000682453.1:c.3503A>C | ENSP00000506943.1:p.Lys1168Thr | |
| ENST00000682477.1:c.*2929A>C | ENSP00000507075.1:n.*2929A>C | |
| ENST00000682589.1:n.9380A>C | ||
| ENST00000682755.1:c.3281A>C | ENSP00000507660.1:p.Lys1094Thr | |
| ENST00000682989.1:c.*594A>C | ENSP00000507786.1:n.*594A>C | |
| ENST00000683039.1:c.3503A>C | ENSP00000508303.1:p.Lys1168Thr | |
| ENST00000683235.1:c.*918A>C | ENSP00000507646.1:n.*918A>C | |
| ENST00000683535.1:n.1633A>C | ||
| ENST00000684584.1:c.2666A>C | ENSP00000508044.1:p.Lys889Thr | |
| ENST00000684626.1:n.1749A>C | ||
| ENST00000684769.1:c.1693A>C | ENSP00000507691.1:n.1693A>C | |
| ENST00000259008.7:c.3503A>C MANE Select | ENSP00000259008.2:p.Lys1168Thr | |
| ENST00000259008.6:c.3503A>C | ENSP00000259008.2:p.Lys1168Thr | |
| NM_032043.2:c.3503A>C , LRG_300t1:c.3503A>C | NP_114432.2:p.Lys1168Thr | |
| XM_011525332.1:c.3563A>C | XP_011523634.1:p.Lys1188Thr | |
| XM_011525333.1:c.3563A>C | XP_011523635.1:p.Lys1188Thr | |
| XM_011525334.1:c.3563A>C | XP_011523636.1:p.Lys1188Thr | |
| XM_011525335.1:c.3503A>C | XP_011523637.1:p.Lys1168Thr | |
| XM_011525336.1:c.3443A>C | XP_011523638.1:p.Lys1148Thr | |
| XM_011525337.1:c.3362A>C | XP_011523639.1:p.Lys1121Thr | |
| XM_011525338.1:c.3080A>C | XP_011523640.1:p.Lys1027Thr | |
| XM_011525332.3:c.3563A>C | XP_011523634.1:p.Lys1188Thr | |
| XM_011525333.3:c.3563A>C | XP_011523635.1:p.Lys1188Thr | |
| XM_011525334.2:c.3563A>C | XP_011523636.1:p.Lys1188Thr | |
| XM_011525335.3:c.3503A>C | XP_011523637.1:p.Lys1168Thr | |
| XM_011525336.2:c.3443A>C | XP_011523638.1:p.Lys1148Thr | |
| XM_011525337.2:c.3362A>C | XP_011523639.1:p.Lys1121Thr | |
| XM_011525338.2:c.3080A>C | XP_011523640.1:p.Lys1027Thr | |
| XM_017025200.1:c.3020A>C | XP_016880689.1:p.Lys1007Thr | |
| XM_017025201.1:c.3020A>C | XP_016880690.1:p.Lys1007Thr | |
| XM_017025202.1:c.1649A>C | XP_016880691.1:p.Lys550Thr | |
| XM_017025203.1:c.1649A>C | XP_016880692.1:p.Lys550Thr | |
| NM_032043.3:c.3503A>C MANE Select | NP_114432.2:p.Lys1168Thr |