Linked Data
ClinVar Variation Id:
2084501
ClinVar RCV Id:
RCV002994739
dbSNP Id:
rs138181048
ExAC:
8:12948940 C / T
gnomAD v2:
8-12948940-C-T
gnomAD v3:
8-13091431-C-T
gnomAD v4:
8-13091431-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.13091431C>T , CM000670.2:g.13091431C>T | GRCh38 |
| NC_000008.10:g.12948940C>T , CM000670.1:g.12948940C>T | GRCh37 |
| NC_000008.9:g.12993311C>T | NCBI36 |
| NG_015998.1:g.428490G>A | |
| NG_015998.2:g.518175G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276297.9:c.3742G>A MANE Select | ENSP00000276297.4:p.Val1248Ile | |
| ENST00000276297.8:c.3742G>A | ENSP00000276297.4:p.Val1248Ile | |
| ENST00000358919.6:c.2431G>A | ENSP00000351797.2:p.Val811Ile | |
| ENST00000510318.5:n.927G>A | ||
| ENST00000512044.6:c.2533G>A | ENSP00000422595.2:p.Val845Ile | |
| ENST00000520226.5:c.2209G>A | ENSP00000428028.1:p.Val737Ile | |
| NM_001164271.1:c.2209G>A | NP_001157743.1:p.Val737Ile | |
| NM_001316668.1:c.2533G>A | NP_001303597.1:p.Val845Ile | |
| NM_006094.4:c.2431G>A | NP_006085.2:p.Val811Ile | |
| NM_182643.2:c.3742G>A | NP_872584.2:p.Val1248Ile | |
| XM_005273374.1:c.3742G>A | XP_005273431.1:p.Val1248Ile | |
| NM_001348081.1:c.3742G>A | NP_001335010.1:p.Val1248Ile | |
| NM_001348082.1:c.2209G>A | NP_001335011.1:p.Val737Ile | |
| NM_001348083.1:c.2209G>A | NP_001335012.1:p.Val737Ile | |
| NM_001348084.1:c.2209G>A | NP_001335013.1:p.Val737Ile | |
| NM_182643.3:c.3742G>A MANE Select | NP_872584.2:p.Val1248Ile | |
| NM_001316668.2:c.2533G>A | NP_001303597.1:p.Val845Ile | |
| NM_001348081.2:c.3742G>A | NP_001335010.1:p.Val1248Ile | |
| NM_001348082.2:c.2209G>A | NP_001335011.1:p.Val737Ile | |
| NM_001348084.2:c.2209G>A | NP_001335013.1:p.Val737Ile | |
| NM_006094.5:c.2431G>A | NP_006085.2:p.Val811Ile | |
| NM_001164271.2:c.2209G>A | NP_001157743.1:p.Val737Ile |