Linked Data
ClinVar Variation Id:
461119
dbSNP Id:
rs149529390
ExAC:
17:59763512 C / T
gnomAD v2:
17-59763512-C-T
gnomAD v3:
17-61686151-C-T
gnomAD v4:
17-61686151-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61686151C>T , CM000679.2:g.61686151C>T | GRCh38 |
| NC_000017.10:g.59763512C>T , CM000679.1:g.59763512C>T | GRCh37 |
| NC_000017.9:g.57118294C>T | NCBI36 |
| NG_007409.2:g.182409G>A , LRG_300:g.182409G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2720G>A | ENSP00000507191.1:n.2720G>A | |
| ENST00000682073.1:n.1330G>A | ||
| ENST00000682433.1:n.1669G>A | ||
| ENST00000682453.1:c.2590G>A | ENSP00000506943.1:p.Val864Ile | |
| ENST00000682477.1:c.*2016G>A | ENSP00000507075.1:n.*2016G>A | |
| ENST00000682589.1:n.8467G>A | ||
| ENST00000682755.1:c.2368G>A | ENSP00000507660.1:p.Val790Ile | |
| ENST00000682989.1:c.2610-2011G>A | ENSP00000507786.1:n.2610-2011G>A | |
| ENST00000683039.1:c.2590G>A | ENSP00000508303.1:p.Val864Ile | |
| ENST00000683235.1:c.*5G>A | ENSP00000507646.1:n.*5G>A | |
| ENST00000683535.1:n.720G>A | ||
| ENST00000684471.1:n.1003G>A | ||
| ENST00000684584.1:c.2069-2011G>A | ENSP00000508044.1:n.2069-2011G>A | |
| ENST00000684626.1:n.836G>A | ||
| ENST00000684769.1:c.780G>A | ENSP00000507691.1:n.780G>A | |
| ENST00000259008.7:c.2590G>A MANE Select | ENSP00000259008.2:p.Val864Ile | |
| ENST00000259008.6:c.2590G>A | ENSP00000259008.2:p.Val864Ile | |
| ENST00000577598.5:c.2590G>A | ENSP00000464654.1:p.Val864Ile | |
| NM_032043.2:c.2590G>A , LRG_300t1:c.2590G>A | NP_114432.2:p.Val864Ile | |
| XM_011525332.1:c.2650G>A | XP_011523634.1:p.Val884Ile | |
| XM_011525333.1:c.2650G>A | XP_011523635.1:p.Val884Ile | |
| XM_011525334.1:c.2650G>A | XP_011523636.1:p.Val884Ile | |
| XM_011525335.1:c.2590G>A | XP_011523637.1:p.Val864Ile | |
| XM_011525336.1:c.2530G>A | XP_011523638.1:p.Val844Ile | |
| XM_011525337.1:c.2449G>A | XP_011523639.1:p.Val817Ile | |
| XM_011525338.1:c.2167G>A | XP_011523640.1:p.Val723Ile | |
| XM_011525340.1:c.*5G>A | XP_011523642.1:n.*5G>A | |
| XM_011525332.3:c.2650G>A | XP_011523634.1:p.Val884Ile | |
| XM_011525333.3:c.2650G>A | XP_011523635.1:p.Val884Ile | |
| XM_011525334.2:c.2650G>A | XP_011523636.1:p.Val884Ile | |
| XM_011525335.3:c.2590G>A | XP_011523637.1:p.Val864Ile | |
| XM_011525336.2:c.2530G>A | XP_011523638.1:p.Val844Ile | |
| XM_011525337.2:c.2449G>A | XP_011523639.1:p.Val817Ile | |
| XM_011525338.2:c.2167G>A | XP_011523640.1:p.Val723Ile | |
| XM_011525340.3:c.*5G>A | XP_011523642.1:n.*5G>A | |
| XM_017025200.1:c.2107G>A | XP_016880689.1:p.Val703Ile | |
| XM_017025201.1:c.2107G>A | XP_016880690.1:p.Val703Ile | |
| XM_017025202.1:c.736G>A | XP_016880691.1:p.Val246Ile | |
| XM_017025203.1:c.736G>A | XP_016880692.1:p.Val246Ile | |
| NM_032043.3:c.2590G>A MANE Select | NP_114432.2:p.Val864Ile |