Linked Data
ClinVar Variation Id:
235414
dbSNP Id:
rs665
ExAC:
1:24181041 C / T
gnomAD v2:
1-24181041-C-T
gnomAD v3:
1-23854551-C-T
gnomAD v4:
1-23854551-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23854551C>T , CM000663.2:g.23854551C>T | GRCh38 |
| NC_000001.10:g.24181041C>T , CM000663.1:g.24181041C>T | GRCh37 |
| NC_000001.9:g.24053628C>T | NCBI36 |
| NG_013346.1:g.18819G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374479.4:c.778G>A MANE Select | ENSP00000363603.3:p.Val260Ile | |
| ENST00000374479.3:c.778G>A | ENSP00000363603.3:p.Val260Ile | |
| NM_000147.4:c.778G>A | NP_000138.2:p.Val260Ile | |
| XM_005245821.1:c.403G>A | XP_005245878.1:p.Val135Ile | |
| XM_011541167.1:c.145G>A | XP_011539469.1:p.Val49Ile | |
| XM_005245821.3:c.403G>A | XP_005245878.1:p.Val135Ile | |
| XM_011541167.3:c.145G>A | XP_011539469.1:p.Val49Ile | |
| XM_017000905.2:c.475G>A | XP_016856394.1:p.Val159Ile | |
| NM_000147.5:c.778G>A MANE Select | NP_000138.2:p.Val260Ile | |
| NR_174379.1:n.956G>A | ||
| NR_174380.1:n.1005G>A | ||
| NR_174381.1:n.844G>A | ||
| NR_174382.1:n.1241G>A |