Linked Data
ClinVar Variation Id:
232920
dbSNP Id:
rs876660074
gnomAD v2:
17-59760670-G-A
gnomAD v4:
17-61683309-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683309G>A , CM000679.2:g.61683309G>A | GRCh38 |
| NC_000017.10:g.59760670G>A , CM000679.1:g.59760670G>A | GRCh37 |
| NC_000017.9:g.57115452G>A | NCBI36 |
| NG_007409.2:g.185251C>T , LRG_300:g.185251C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2477C>T | ||
| ENST00000682453.1:c.3737C>T | ENSP00000506943.1:p.Pro1246Leu | |
| ENST00000682477.1:c.*3163C>T | ENSP00000507075.1:n.*3163C>T | |
| ENST00000682589.1:n.9614C>T | ||
| ENST00000682755.1:c.3515C>T | ENSP00000507660.1:p.Pro1172Leu | |
| ENST00000682989.1:c.*828C>T | ENSP00000507786.1:n.*828C>T | |
| ENST00000683039.1:c.3737C>T | ENSP00000508303.1:p.Pro1246Leu | |
| ENST00000683235.1:c.*1152C>T | ENSP00000507646.1:n.*1152C>T | |
| ENST00000683535.1:n.1867C>T | ||
| ENST00000684584.1:c.2900C>T | ENSP00000508044.1:p.Pro967Leu | |
| ENST00000684626.1:n.1983C>T | ||
| ENST00000684769.1:c.1927C>T | ENSP00000507691.1:n.1927C>T | |
| ENST00000259008.7:c.3737C>T MANE Select | ENSP00000259008.2:p.Pro1246Leu | |
| ENST00000259008.6:c.3737C>T | ENSP00000259008.2:p.Pro1246Leu | |
| NM_032043.2:c.3737C>T , LRG_300t1:c.3737C>T | NP_114432.2:p.Pro1246Leu | |
| XM_011525332.1:c.3797C>T | XP_011523634.1:p.Pro1266Leu | |
| XM_011525333.1:c.3797C>T | XP_011523635.1:p.Pro1266Leu | |
| XM_011525334.1:c.3797C>T | XP_011523636.1:p.Pro1266Leu | |
| XM_011525335.1:c.3737C>T | XP_011523637.1:p.Pro1246Leu | |
| XM_011525336.1:c.3677C>T | XP_011523638.1:p.Pro1226Leu | |
| XM_011525337.1:c.3596C>T | XP_011523639.1:p.Pro1199Leu | |
| XM_011525338.1:c.3314C>T | XP_011523640.1:p.Pro1105Leu | |
| XM_011525332.3:c.3797C>T | XP_011523634.1:p.Pro1266Leu | |
| XM_011525333.3:c.3797C>T | XP_011523635.1:p.Pro1266Leu | |
| XM_011525334.2:c.3797C>T | XP_011523636.1:p.Pro1266Leu | |
| XM_011525335.3:c.3737C>T | XP_011523637.1:p.Pro1246Leu | |
| XM_011525336.2:c.3677C>T | XP_011523638.1:p.Pro1226Leu | |
| XM_011525337.2:c.3596C>T | XP_011523639.1:p.Pro1199Leu | |
| XM_011525338.2:c.3314C>T | XP_011523640.1:p.Pro1105Leu | |
| XM_017025200.1:c.3254C>T | XP_016880689.1:p.Pro1085Leu | |
| XM_017025201.1:c.3254C>T | XP_016880690.1:p.Pro1085Leu | |
| XM_017025202.1:c.1883C>T | XP_016880691.1:p.Pro628Leu | |
| XM_017025203.1:c.1883C>T | XP_016880692.1:p.Pro628Leu | |
| NM_032043.3:c.3737C>T MANE Select | NP_114432.2:p.Pro1246Leu |