Linked Data
ClinVar Variation Id:
261508
dbSNP Id:
rs7234309
ExAC:
18:10752666 C / T
gnomAD v2:
18-10752666-C-T
gnomAD v3:
18-10752668-C-T
gnomAD v4:
18-10752668-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10752668C>T , CM000680.2:g.10752668C>T | GRCh38 |
| NC_000018.9:g.10752666C>T , CM000680.1:g.10752666C>T | GRCh37 |
| NC_000018.8:g.10742666C>T | NCBI36 |
| NG_034005.1:g.401095G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383408.7:c.4135G>A | ENSP00000372900.4:p.Val1379Ile | |
| ENST00000686869.1:n.4192G>A | ||
| ENST00000674853.1:c.4135G>A MANE Select | ENSP00000501957.1:p.Val1379Ile | |
| ENST00000302079.10:c.4060G>A | ENSP00000303316.6:p.Val1354Ile | |
| ENST00000383408.6:c.3913G>A | ENSP00000372900.3:p.Val1305Ile | |
| ENST00000503781.7:c.4060G>A | ENSP00000421377.3:p.Val1354Ile | |
| ENST00000580640.5:c.4135G>A | ENSP00000463094.1:p.Val1379Ile | |
| ENST00000582913.5:c.4102G>A | ENSP00000462115.1:p.Val1368Ile | |
| NM_022068.3:c.4060G>A | NP_071351.2:p.Val1354Ile | |
| XM_011525723.1:c.4192G>A | XP_011524025.1:p.Val1398Ile | |
| XM_011525724.1:c.4135G>A | XP_011524026.1:p.Val1379Ile | |
| XM_011525725.1:c.4102G>A | XP_011524027.1:p.Val1368Ile | |
| XM_011525726.1:c.4192G>A | XP_011524028.1:p.Val1398Ile | |
| XM_011525727.1:c.4192G>A | XP_011524029.1:p.Val1398Ile | |
| XM_011525723.3:c.4192G>A | XP_011524025.1:p.Val1398Ile | |
| XM_011525724.3:c.4135G>A | XP_011524026.1:p.Val1379Ile | |
| XM_011525725.3:c.4102G>A | XP_011524027.1:p.Val1368Ile | |
| XM_011525726.3:c.4192G>A | XP_011524028.1:p.Val1398Ile | |
| XM_017025918.2:c.4153G>A | XP_016881407.1:p.Val1385Ile | |
| XR_001753259.2:n.5189G>A | ||
| NM_001378183.1:c.4135G>A MANE Select | NP_001365112.1:p.Val1379Ile | |
| NM_022068.4:c.4060G>A | NP_071351.2:p.Val1354Ile |