Linked Data
ClinVar Variation Id:
1712561
ClinVar RCV Id:
RCV002300733
dbSNP Id:
rs1395152494
gnomAD v2:
4-52894193-C-T
gnomAD v4:
4-52028027-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028027C>T , CM000666.2:g.52028027C>T | GRCh38 |
| NC_000004.11:g.52894193C>T , CM000666.1:g.52894193C>T | GRCh37 |
| NC_000004.10:g.52588950C>T | NCBI36 |
| NG_008891.1:g.15293G>A , LRG_204:g.15293G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381431.10:c.694G>A MANE Select | ENSP00000370839.6:p.Val232Ile | |
| ENST00000381431.9:c.694G>A | ENSP00000370839.5:p.Val232Ile | |
| NM_000232.4:c.694G>A , LRG_204t1:c.694G>A | NP_000223.1:p.Val232Ile | |
| XM_006714049.2:c.397G>A | XP_006714112.1:p.Val133Ile | |
| XM_011534403.1:c.484G>A | XP_011532705.1:p.Val162Ile | |
| XM_011534404.1:c.397G>A | XP_011532706.1:p.Val133Ile | |
| NM_000232.5:c.694G>A MANE Select | NP_000223.1:p.Val232Ile |