Linked Data
ClinVar Variation Id:
2046342
dbSNP Id:
rs760431058
ExAC:
1:115220030 C / T
gnomAD v2:
1-115220030-C-T
gnomAD v3:
1-114677409-C-T
gnomAD v4:
1-114677409-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677409C>T , CM000663.2:g.114677409C>T | GRCh38 |
| NC_000001.10:g.115220030C>T , CM000663.1:g.115220030C>T | GRCh37 |
| NC_000001.9:g.115021553C>T | NCBI36 |
| NG_008012.1:g.23147G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1318G>A | ENSP00000358551.4:p.Val440Ile | |
| ENST00000520113.7:c.1330G>A MANE Select | ENSP00000430075.3:p.Val444Ile | |
| ENST00000637080.1:c.1113G>A | ENSP00000489753.1:n.1113G>A | |
| ENST00000639077.1:n.995G>A | ||
| ENST00000369538.3:c.1417G>A | ENSP00000358551.3:p.Val473Ile | |
| ENST00000520113.6:c.1429G>A | ENSP00000430075.2:p.Val477Ile | |
| NM_000036.2:c.1429G>A | NP_000027.2:p.Val477Ile | |
| NM_001172626.1:c.1417G>A | NP_001166097.1:p.Val473Ile | |
| NM_000036.3:c.1330G>A MANE Select | NP_000027.3:p.Val444Ile | |
| NM_001172626.2:c.1318G>A | NP_001166097.2:p.Val440Ile |