Linked Data
ClinVar Variation Id:
432198
dbSNP Id:
rs113032343
ExAC:
20:10393301 C / T
gnomAD v2:
20-10393301-C-T
gnomAD v3:
20-10412653-C-T
gnomAD v4:
20-10412653-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10412653C>T , CM000682.2:g.10412653C>T | GRCh38 |
| NC_000020.10:g.10393301C>T , CM000682.1:g.10393301C>T | GRCh37 |
| NC_000020.9:g.10341301C>T | NCBI36 |
| NG_009109.1:g.26566G>A | |
| NG_009109.2:g.26566G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.862G>A | ENSP00000498849.1:p.Val288Ile | |
| ENST00000652676.1:n.506G>A | ||
| ENST00000347364.7:c.862G>A MANE Select | ENSP00000246062.4:p.Val288Ile | |
| ENST00000399054.6:c.862G>A | ENSP00000382008.2:p.Val288Ile | |
| NM_018848.3:c.862G>A | NP_061336.1:p.Val288Ile | |
| NM_170784.2:c.862G>A | NP_740754.1:p.Val288Ile | |
| NR_072977.1:n.364-3850G>A | ||
| NR_072977.2:n.347-3850G>A | ||
| NM_170784.3:c.862G>A MANE Select | NP_740754.1:p.Val288Ile |