Linked Data
ClinVar Variation Id:
930100
dbSNP Id:
rs376422017
ExAC:
9:75435840 G / A
gnomAD v2:
9-75435840-G-A
gnomAD v3:
9-72820924-G-A
gnomAD v4:
9-72820924-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72820924G>A , CM000671.2:g.72820924G>A | GRCh38 |
| NC_000009.11:g.75435840G>A , CM000671.1:g.75435840G>A | GRCh37 |
| NC_000009.10:g.74625660G>A | NCBI36 |
| NG_008213.1:g.304124G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1846G>A MANE Select | ENSP00000297784.6:p.Val616Ile | |
| ENST00000644967.1:c.*286G>A | ENSP00000496159.1:n.*286G>A | |
| ENST00000645053.1:c.1258-5945G>A | ENSP00000493838.1:n.1258-5945G>A | |
| ENST00000645208.2:c.1846G>A | ENSP00000494684.1:p.Val616Ile | |
| ENST00000645773.1:c.1720G>A | ENSP00000493698.1:p.Val574Ile | |
| ENST00000645787.1:n.1989G>A | ||
| ENST00000646619.1:c.1408G>A | ENSP00000493726.1:p.Val470Ile | |
| ENST00000651183.1:c.1408G>A | ENSP00000498723.1:p.Val470Ile | |
| ENST00000297784.9:c.1846G>A | ENSP00000297784.5:p.Val616Ile | |
| ENST00000340019.4:c.1846G>A | ENSP00000341433.3:p.Val616Ile | |
| ENST00000469455.1:n.327G>A | ||
| ENST00000486417.5:n.744G>A | ||
| NM_138691.2:c.1846G>A | NP_619636.2:p.Val616Ile | |
| XM_011518213.1:c.2434G>A | XP_011516515.1:p.Val812Ile | |
| XM_017014256.1:c.1849G>A | XP_016869745.1:p.Val617Ile | |
| NM_138691.3:c.1846G>A MANE Select | NP_619636.2:p.Val616Ile |