Linked Data
ClinVar Variation Id:
186270
dbSNP Id:
rs777741543
ExAC:
17:59857726 C / T
gnomAD v2:
17-59857726-C-T
gnomAD v3:
17-61780365-C-T
gnomAD v4:
17-61780365-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61780365C>T , CM000679.2:g.61780365C>T | GRCh38 |
| NC_000017.10:g.59857726C>T , CM000679.1:g.59857726C>T | GRCh37 |
| NC_000017.9:g.57212508C>T | NCBI36 |
| NG_007409.2:g.88195G>A , LRG_300:g.88195G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.1413G>A | ENSP00000463827.2:n.1413G>A | |
| ENST00000584322.2:c.1831G>A | ENSP00000463272.2:p.Val611Ile | |
| ENST00000682066.1:c.1324G>A | ENSP00000507191.1:p.Val442Ile | |
| ENST00000682073.1:n.571G>A | ||
| ENST00000682453.1:c.1831G>A | ENSP00000506943.1:p.Val611Ile | |
| ENST00000682477.1:c.*1257G>A | ENSP00000507075.1:n.*1257G>A | |
| ENST00000682589.1:n.4010G>A | ||
| ENST00000682611.1:c.1324G>A | ENSP00000508326.1:p.Val442Ile | |
| ENST00000682755.1:c.1609G>A | ENSP00000507660.1:p.Val537Ile | |
| ENST00000682989.1:c.1831G>A | ENSP00000507786.1:p.Val611Ile | |
| ENST00000683039.1:c.1831G>A | ENSP00000508303.1:p.Val611Ile | |
| ENST00000683235.1:c.1831G>A | ENSP00000507646.1:p.Val611Ile | |
| ENST00000683381.1:c.1831G>A | ENSP00000508184.1:p.Val611Ile | |
| ENST00000684471.1:n.304G>A | ||
| ENST00000684584.1:c.1324G>A | ENSP00000508044.1:p.Val442Ile | |
| ENST00000259008.7:c.1831G>A MANE Select | ENSP00000259008.2:p.Val611Ile | |
| ENST00000259008.6:c.1831G>A | ENSP00000259008.2:p.Val611Ile | |
| ENST00000577598.5:c.1831G>A | ENSP00000464654.1:p.Val611Ile | |
| ENST00000579028.1:c.524G>A | ||
| NM_032043.2:c.1831G>A , LRG_300t1:c.1831G>A | NP_114432.2:p.Val611Ile | |
| XM_011525332.1:c.1831G>A | XP_011523634.1:p.Val611Ile | |
| XM_011525333.1:c.1831G>A | XP_011523635.1:p.Val611Ile | |
| XM_011525334.1:c.1831G>A | XP_011523636.1:p.Val611Ile | |
| XM_011525335.1:c.1831G>A | XP_011523637.1:p.Val611Ile | |
| XM_011525336.1:c.1831G>A | XP_011523638.1:p.Val611Ile | |
| XM_011525337.1:c.1794+475G>A | XP_011523639.1:n.1794+475G>A | |
| XM_011525338.1:c.1348G>A | XP_011523640.1:p.Val450Ile | |
| XM_011525339.1:c.1831G>A | XP_011523641.1:p.Val611Ile | |
| XM_011525340.1:c.1831G>A | XP_011523642.1:p.Val611Ile | |
| XM_011525341.1:c.1831G>A | XP_011523643.1:p.Val611Ile | |
| XM_011525332.3:c.1831G>A | XP_011523634.1:p.Val611Ile | |
| XM_011525333.3:c.1831G>A | XP_011523635.1:p.Val611Ile | |
| XM_011525334.2:c.1831G>A | XP_011523636.1:p.Val611Ile | |
| XM_011525335.3:c.1831G>A | XP_011523637.1:p.Val611Ile | |
| XM_011525336.2:c.1831G>A | XP_011523638.1:p.Val611Ile | |
| XM_011525337.2:c.1794+475G>A | XP_011523639.1:n.1794+475G>A | |
| XM_011525338.2:c.1348G>A | XP_011523640.1:p.Val450Ile | |
| XM_011525339.3:c.1831G>A | XP_011523641.1:p.Val611Ile | |
| XM_011525340.3:c.1831G>A | XP_011523642.1:p.Val611Ile | |
| XM_011525341.3:c.1831G>A | XP_011523643.1:p.Val611Ile | |
| XM_017025200.1:c.1348G>A | XP_016880689.1:p.Val450Ile | |
| XM_017025201.1:c.1288G>A | XP_016880690.1:p.Val430Ile | |
| NM_032043.3:c.1831G>A MANE Select | NP_114432.2:p.Val611Ile |