Linked Data
ClinVar Variation Id:
98140
dbSNP Id:
rs63749853
ExAC:
17:42427667 G / A
gnomAD v2:
17-42427667-G-A
gnomAD v3:
17-44350299-G-A
gnomAD v4:
17-44350299-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44350299G>A , CM000679.2:g.44350299G>A | GRCh38 |
| NC_000017.10:g.42427667G>A , CM000679.1:g.42427667G>A | GRCh37 |
| NC_000017.9:g.39783193G>A | NCBI36 |
| NG_007886.1:g.10177G>A , LRG_661:g.10177G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.421G>A MANE Select | ENSP00000053867.2:p.Val141Ile | |
| ENST00000639447.1:c.421G>A | ENSP00000492014.1:p.Val141Ile | |
| ENST00000053867.7:c.421G>A | ENSP00000053867.2:p.Val141Ile | |
| ENST00000586782.5:c.421G>A | ENSP00000468318.1:p.Val141Ile | |
| ENST00000587387.5:c.463G>A | ENSP00000467431.1:p.Val155Ile | |
| ENST00000588143.5:c.421G>A | ENSP00000465375.1:p.Val141Ile | |
| ENST00000588237.5:c.265-143G>A | ENSP00000466611.1:n.265-143G>A | |
| ENST00000589265.5:c.421G>A | ENSP00000467616.1:p.Val141Ile | |
| ENST00000590984.1:n.11G>A | ||
| ENST00000592783.5:c.421G>A | ENSP00000467870.1:p.Val141Ile | |
| ENST00000593167.5:c.421G>A | ENSP00000466405.1:p.Val141Ile | |
| NM_002087.3:c.421G>A | NP_002078.1:p.Val141Ile | |
| XM_005257253.1:c.421G>A | XP_005257310.1:p.Val141Ile | |
| XM_024450730.1:c.421G>A | XP_024306498.1:p.Val141Ile | |
| NM_002087.4:c.421G>A MANE Select | NP_002078.1:p.Val141Ile |