Linked Data
ClinVar Variation Id:
485454
dbSNP Id:
rs770517912
ExAC:
17:59761222 G / A
gnomAD v4:
17-61683861-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683861G>A , CM000679.2:g.61683861G>A | GRCh38 |
| NC_000017.10:g.59761222G>A , CM000679.1:g.59761222G>A | GRCh37 |
| NC_000017.9:g.57116004G>A | NCBI36 |
| NG_007409.2:g.184699C>T , LRG_300:g.184699C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1925C>T | ||
| ENST00000682453.1:c.3185C>T | ENSP00000506943.1:p.Thr1062Ile | |
| ENST00000682477.1:c.*2611C>T | ENSP00000507075.1:n.*2611C>T | |
| ENST00000682589.1:n.9062C>T | ||
| ENST00000682755.1:c.2963C>T | ENSP00000507660.1:p.Thr988Ile | |
| ENST00000682989.1:c.*276C>T | ENSP00000507786.1:n.*276C>T | |
| ENST00000683039.1:c.3185C>T | ENSP00000508303.1:p.Thr1062Ile | |
| ENST00000683235.1:c.*600C>T | ENSP00000507646.1:n.*600C>T | |
| ENST00000683535.1:n.1315C>T | ||
| ENST00000684584.1:c.2348C>T | ENSP00000508044.1:p.Thr783Ile | |
| ENST00000684626.1:n.1431C>T | ||
| ENST00000684769.1:c.1375C>T | ENSP00000507691.1:n.1375C>T | |
| ENST00000259008.7:c.3185C>T MANE Select | ENSP00000259008.2:p.Thr1062Ile | |
| ENST00000259008.6:c.3185C>T | ENSP00000259008.2:p.Thr1062Ile | |
| NM_032043.2:c.3185C>T , LRG_300t1:c.3185C>T | NP_114432.2:p.Thr1062Ile | |
| XM_011525332.1:c.3245C>T | XP_011523634.1:p.Thr1082Ile | |
| XM_011525333.1:c.3245C>T | XP_011523635.1:p.Thr1082Ile | |
| XM_011525334.1:c.3245C>T | XP_011523636.1:p.Thr1082Ile | |
| XM_011525335.1:c.3185C>T | XP_011523637.1:p.Thr1062Ile | |
| XM_011525336.1:c.3125C>T | XP_011523638.1:p.Thr1042Ile | |
| XM_011525337.1:c.3044C>T | XP_011523639.1:p.Thr1015Ile | |
| XM_011525338.1:c.2762C>T | XP_011523640.1:p.Thr921Ile | |
| XM_011525332.3:c.3245C>T | XP_011523634.1:p.Thr1082Ile | |
| XM_011525333.3:c.3245C>T | XP_011523635.1:p.Thr1082Ile | |
| XM_011525334.2:c.3245C>T | XP_011523636.1:p.Thr1082Ile | |
| XM_011525335.3:c.3185C>T | XP_011523637.1:p.Thr1062Ile | |
| XM_011525336.2:c.3125C>T | XP_011523638.1:p.Thr1042Ile | |
| XM_011525337.2:c.3044C>T | XP_011523639.1:p.Thr1015Ile | |
| XM_011525338.2:c.2762C>T | XP_011523640.1:p.Thr921Ile | |
| XM_017025200.1:c.2702C>T | XP_016880689.1:p.Thr901Ile | |
| XM_017025201.1:c.2702C>T | XP_016880690.1:p.Thr901Ile | |
| XM_017025202.1:c.1331C>T | XP_016880691.1:p.Thr444Ile | |
| XM_017025203.1:c.1331C>T | XP_016880692.1:p.Thr444Ile | |
| NM_032043.3:c.3185C>T MANE Select | NP_114432.2:p.Thr1062Ile |