Linked Data
ClinVar Variation Id:
14840
dbSNP Id:
rs1494555
ExAC:
5:35871190 G / A
gnomAD v2:
5-35871190-G-A
gnomAD v3:
5-35871088-G-A
gnomAD v4:
5-35871088-G-A
ERepo:
CA124393/MONDO:0012163/119
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35871088G>A , CM000667.2:g.35871088G>A | GRCh38 |
| NC_000005.9:g.35871190G>A , CM000667.1:g.35871190G>A | GRCh37 |
| NC_000005.8:g.35906947G>A | NCBI36 |
| NG_009567.1:g.19200G>A , LRG_74:g.19200G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.412G>A MANE Select | ENSP00000306157.3:p.Val138Ile | |
| ENST00000303115.7:c.412G>A | ENSP00000306157.3:p.Val138Ile | |
| ENST00000506850.5:c.412G>A | ENSP00000421207.1:p.Val138Ile | |
| ENST00000514217.5:c.412G>A | ENSP00000427688.1:p.Val138Ile | |
| NM_002185.3:c.412G>A | NP_002176.2:p.Val138Ile | |
| NR_120485.1:n.515G>A | ||
| XM_005248299.2:c.412G>A | XP_005248356.1:p.Val138Ile | |
| XM_005248300.1:c.412G>A | XP_005248357.1:p.Val138Ile | |
| XM_011514037.1:c.412G>A | XP_011512339.1:p.Val138Ile | |
| NM_002185.4:c.412G>A | NP_002176.2:p.Val138Ile | |
| NR_120485.2:n.541G>A | ||
| XM_005248299.4:c.412G>A | XP_005248356.1:p.Val138Ile | |
| NM_002185.5:c.412G>A MANE Select | NP_002176.2:p.Val138Ile | |
| NR_120485.3:n.499G>A |