Linked Data
dbSNP Id:
rs368924924
gnomAD v2:
20-10393442-C-A
gnomAD v3:
20-10412794-C-A
gnomAD v4:
20-10412794-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10412794C>A , CM000682.2:g.10412794C>A | GRCh38 |
| NC_000020.10:g.10393442C>A , CM000682.1:g.10393442C>A | GRCh37 |
| NC_000020.9:g.10341442C>A | NCBI36 |
| NG_009109.1:g.26425G>T | |
| NG_009109.2:g.26425G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.721G>T | ENSP00000498849.1:p.Val241Leu | |
| ENST00000652676.1:n.459-94G>T | ||
| ENST00000347364.7:c.721G>T MANE Select | ENSP00000246062.4:p.Val241Leu | |
| ENST00000399054.6:c.721G>T | ENSP00000382008.2:p.Val241Leu | |
| NM_018848.3:c.721G>T | NP_061336.1:p.Val241Leu | |
| NM_170784.2:c.721G>T | NP_740754.1:p.Val241Leu | |
| NR_072977.1:n.364-3991G>T | ||
| NR_072977.2:n.347-3991G>T | ||
| NM_170784.3:c.721G>T MANE Select | NP_740754.1:p.Val241Leu |