Linked Data
ClinVar Variation Id:
475578
dbSNP Id:
rs144493873
ExAC:
22:31330917 C / T
gnomAD v2:
22-31330917-C-T
gnomAD v3:
22-30934930-C-T
gnomAD v4:
22-30934930-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30934930C>T , CM000684.2:g.30934930C>T | GRCh38 |
| NC_000022.10:g.31330917C>T , CM000684.1:g.31330917C>T | GRCh37 |
| NC_000022.9:g.29660917C>T | NCBI36 |
| NG_046752.1:g.38568G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397641.8:c.2044G>A MANE Select | ENSP00000380763.2:p.Val682Ile | |
| ENST00000674576.1:n.3490G>A | ||
| ENST00000675317.1:n.465G>A | ||
| ENST00000675601.1:n.1886G>A | ||
| ENST00000676215.1:n.2887G>A | ||
| ENST00000676263.1:n.289G>A | ||
| ENST00000215862.8:c.1858G>A | ENSP00000215862.4:p.Val620Ile | |
| ENST00000397641.7:c.2044G>A | ENSP00000380763.2:p.Val682Ile | |
| NM_001303256.1:c.2044G>A | NP_001290185.1:p.Val682Ile | |
| NM_001303257.1:c.2044G>A | NP_001290186.1:p.Val682Ile | |
| NM_014941.2:c.1858G>A | NP_055756.1:p.Val620Ile | |
| XM_011530003.1:c.2068G>A | XP_011528305.1:p.Val690Ile | |
| XM_011530004.1:c.2059G>A | XP_011528306.1:p.Val687Ile | |
| XM_011530005.1:c.2068G>A | XP_011528307.1:p.Val690Ile | |
| XM_011530006.1:c.1909G>A | XP_011528308.1:p.Val637Ile | |
| NM_001303256.2:c.2044G>A | NP_001290185.1:p.Val682Ile | |
| NM_001303257.2:c.2044G>A | NP_001290186.1:p.Val682Ile | |
| NM_014941.3:c.1858G>A | NP_055756.1:p.Val620Ile | |
| XM_011530004.2:c.2059G>A | XP_011528306.1:p.Val687Ile | |
| XM_017028667.2:c.2059G>A | XP_016884156.1:p.Val687Ile | |
| NM_001303256.3:c.2044G>A MANE Select | NP_001290185.1:p.Val682Ile |