Linked Data
ClinVar Variation Id:
190886
dbSNP Id:
rs147205617
ExAC:
11:123513271 C / T
gnomAD v2:
11-123513271-C-T
gnomAD v3:
11-123642563-C-T
gnomAD v4:
11-123642563-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123642563C>T , CM000673.2:g.123642563C>T | GRCh38 |
| NC_000011.9:g.123513271C>T , CM000673.1:g.123513271C>T | GRCh37 |
| NC_000011.8:g.123018481C>T | NCBI36 |
| NG_016283.1:g.17045G>A , LRG_421:g.17045G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299333.8:c.328G>A MANE Select | ENSP00000299333.3:p.Val110Ile | |
| ENST00000657123.1:c.328G>A | ENSP00000499439.1:p.Val110Ile | |
| ENST00000657191.1:c.328G>A | ENSP00000499755.1:p.Val110Ile | |
| ENST00000659826.1:c.24G>A | ||
| ENST00000667790.1:c.328G>A | ENSP00000499234.1:p.Val110Ile | |
| ENST00000299333.7:c.328G>A | ENSP00000299333.3:p.Val110Ile | |
| ENST00000392770.6:c.328G>A | ENSP00000376523.2:p.Val110Ile | |
| ENST00000527836.5:c.328G>A | ENSP00000435554.1:p.Val110Ile | |
| ENST00000530277.5:c.328G>A | ENSP00000432785.1:p.Val110Ile | |
| NM_001040151.1:c.328G>A | NP_001035241.1:p.Val110Ile | |
| NM_018400.3:c.328G>A , LRG_421t1:c.328G>A | NP_060870.1:p.Val110Ile | |
| XM_011542897.1:c.328G>A | XP_011541199.1:p.Val110Ile | |
| XR_947858.1:n.735G>A | ||
| XM_011542897.2:c.328G>A | XP_011541199.1:p.Val110Ile | |
| NM_001040151.2:c.328G>A MANE Select | NP_001035241.1:p.Val110Ile | |
| NM_018400.4:c.328G>A | NP_060870.1:p.Val110Ile |