Linked Data
ClinVar Variation Id:
292327
dbSNP Id:
rs76773981
ExAC:
1:120293430 C / T
gnomAD v2:
1-120293430-C-T
gnomAD v3:
1-119750807-C-T
gnomAD v4:
1-119750807-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119750807C>T , CM000663.2:g.119750807C>T | GRCh38 |
| NC_000001.10:g.120293430C>T , CM000663.1:g.120293430C>T | GRCh37 |
| NC_000001.9:g.120094953C>T | NCBI36 |
| NG_013348.1:g.23126G>A , LRG_447:g.23126G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.1522G>A MANE Select | ENSP00000358414.3:p.Val508Ile | |
| ENST00000369406.7:c.1522G>A | ENSP00000358414.3:p.Val508Ile | |
| ENST00000544913.2:c.1396G>A | ENSP00000439495.2:p.Val466Ile | |
| NM_001166107.1:c.1396G>A , LRG_447t2:c.1396G>A | NP_001159579.1:p.Val466Ile | |
| NM_005518.3:c.1522G>A , LRG_447t1:c.1522G>A | NP_005509.1:p.Val508Ile | |
| XM_011541313.1:c.1357G>A | XP_011539615.1:p.Val453Ile | |
| XM_011541313.2:c.1357G>A | XP_011539615.1:p.Val453Ile | |
| NM_005518.4:c.1522G>A MANE Select | NP_005509.1:p.Val508Ile |