Linked Data
ClinVar Variation Id:
2672231
ClinVar RCV Id:
RCV003456622
dbSNP Id:
rs1346634985
gnomAD v2:
10-12039744-A-T
gnomAD v4:
10-11997745-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.11997745A>T , CM000672.2:g.11997745A>T | GRCh38 |
| NC_000010.10:g.12039744A>T , CM000672.1:g.12039744A>T | GRCh37 |
| NC_000010.9:g.12079750A>T | NCBI36 |
| NG_033936.1:g.50426T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357604.10:c.1771T>A MANE Select | ENSP00000350221.5:p.Phe591Ile | |
| ENST00000356352.6:c.1771T>A | ENSP00000348708.2:p.Phe591Ile | |
| ENST00000357604.9:c.1771T>A | ENSP00000350221.5:p.Phe591Ile | |
| ENST00000397053.6:c.1771T>A | ENSP00000380244.2:p.Phe591Ile | |
| NM_015542.3:c.1771T>A | NP_056357.1:p.Phe591Ile | |
| NM_080599.2:c.1771T>A | NP_542166.1:p.Phe591Ile | |
| XM_011519447.1:c.1771T>A | XP_011517749.1:p.Phe591Ile | |
| XM_011519448.1:c.1771T>A | XP_011517750.1:p.Phe591Ile | |
| XM_011519449.1:c.1771T>A | XP_011517751.1:p.Phe591Ile | |
| XR_930489.1:n.1844T>A | ||
| XM_011519449.3:c.1771T>A | XP_011517751.1:p.Phe591Ile | |
| XR_930489.3:n.1876T>A | ||
| NM_015542.4:c.1771T>A MANE Select | NP_056357.1:p.Phe591Ile | |
| NM_080599.3:c.1771T>A | NP_542166.1:p.Phe591Ile |