Linked Data
dbSNP Id:
rs779697910
ExAC:
10:90982327 C / T
gnomAD v2:
10-90982327-C-T
gnomAD v3:
10-89222570-C-T
gnomAD v4:
10-89222570-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89222570C>T , CM000672.2:g.89222570C>T | GRCh38 |
| NC_000010.10:g.90982327C>T , CM000672.1:g.90982327C>T | GRCh37 |
| NC_000010.9:g.90972307C>T | NCBI36 |
| NG_008194.1:g.34334G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.835G>A MANE Select | ENSP00000337354.5:p.Val279Ile | |
| ENST00000336233.9:c.835G>A | ENSP00000337354.5:p.Val279Ile | |
| ENST00000371837.5:c.667G>A | ENSP00000360903.1:p.Val223Ile | |
| ENST00000428800.5:c.835G>A | ENSP00000388415.1:p.Val279Ile | |
| ENST00000456827.5:c.487G>A | ENSP00000413019.2:p.Val163Ile | |
| NM_000235.3:c.835G>A | NP_000226.2:p.Val279Ile | |
| NM_001127605.2:c.835G>A | NP_001121077.1:p.Val279Ile | |
| NM_001288979.1:c.487G>A | NP_001275908.1:p.Val163Ile | |
| XM_024448023.1:c.835G>A | XP_024303791.1:p.Val279Ile | |
| NM_000235.4:c.835G>A MANE Select | NP_000226.2:p.Val279Ile | |
| NM_001127605.3:c.835G>A | NP_001121077.1:p.Val279Ile | |
| NM_001288979.2:c.487G>A | NP_001275908.1:p.Val163Ile |