Linked Data
ClinVar Variation Id:
491456
dbSNP Id:
rs1483709056
gnomAD v2:
17-59763325-G-A
gnomAD v4:
17-61685964-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61685964G>A , CM000679.2:g.61685964G>A | GRCh38 |
| NC_000017.10:g.59763325G>A , CM000679.1:g.59763325G>A | GRCh37 |
| NC_000017.9:g.57118107G>A | NCBI36 |
| NG_007409.2:g.182596C>T , LRG_300:g.182596C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2907C>T | ENSP00000507191.1:n.2907C>T | |
| ENST00000682073.1:n.1517C>T | ||
| ENST00000682433.1:n.1856C>T | ||
| ENST00000682453.1:c.2777C>T | ENSP00000506943.1:p.Ala926Val | |
| ENST00000682477.1:c.*2203C>T | ENSP00000507075.1:n.*2203C>T | |
| ENST00000682589.1:n.8654C>T | ||
| ENST00000682755.1:c.2555C>T | ENSP00000507660.1:p.Ala852Val | |
| ENST00000682989.1:c.2610-1824C>T | ENSP00000507786.1:n.2610-1824C>T | |
| ENST00000683039.1:c.2777C>T | ENSP00000508303.1:p.Ala926Val | |
| ENST00000683235.1:c.*192C>T | ENSP00000507646.1:n.*192C>T | |
| ENST00000683535.1:n.907C>T | ||
| ENST00000684471.1:n.1190C>T | ||
| ENST00000684584.1:c.2069-1824C>T | ENSP00000508044.1:n.2069-1824C>T | |
| ENST00000684626.1:n.1023C>T | ||
| ENST00000684769.1:c.967C>T | ENSP00000507691.1:n.967C>T | |
| ENST00000259008.7:c.2777C>T MANE Select | ENSP00000259008.2:p.Ala926Val | |
| ENST00000259008.6:c.2777C>T | ENSP00000259008.2:p.Ala926Val | |
| ENST00000577598.5:c.2777C>T | ENSP00000464654.1:p.Ala926Val | |
| NM_032043.2:c.2777C>T , LRG_300t1:c.2777C>T | NP_114432.2:p.Ala926Val | |
| XM_011525332.1:c.2837C>T | XP_011523634.1:p.Ala946Val | |
| XM_011525333.1:c.2837C>T | XP_011523635.1:p.Ala946Val | |
| XM_011525334.1:c.2837C>T | XP_011523636.1:p.Ala946Val | |
| XM_011525335.1:c.2777C>T | XP_011523637.1:p.Ala926Val | |
| XM_011525336.1:c.2717C>T | XP_011523638.1:p.Ala906Val | |
| XM_011525337.1:c.2636C>T | XP_011523639.1:p.Ala879Val | |
| XM_011525338.1:c.2354C>T | XP_011523640.1:p.Ala785Val | |
| XM_011525332.3:c.2837C>T | XP_011523634.1:p.Ala946Val | |
| XM_011525333.3:c.2837C>T | XP_011523635.1:p.Ala946Val | |
| XM_011525334.2:c.2837C>T | XP_011523636.1:p.Ala946Val | |
| XM_011525335.3:c.2777C>T | XP_011523637.1:p.Ala926Val | |
| XM_011525336.2:c.2717C>T | XP_011523638.1:p.Ala906Val | |
| XM_011525337.2:c.2636C>T | XP_011523639.1:p.Ala879Val | |
| XM_011525338.2:c.2354C>T | XP_011523640.1:p.Ala785Val | |
| XM_017025200.1:c.2294C>T | XP_016880689.1:p.Ala765Val | |
| XM_017025201.1:c.2294C>T | XP_016880690.1:p.Ala765Val | |
| XM_017025202.1:c.923C>T | XP_016880691.1:p.Ala308Val | |
| XM_017025203.1:c.923C>T | XP_016880692.1:p.Ala308Val | |
| NM_032043.3:c.2777C>T MANE Select | NP_114432.2:p.Ala926Val |