Linked Data
ClinVar Variation Id:
534929
dbSNP Id:
rs199614709
ExAC:
11:68705709 G / A
gnomAD v2:
11-68705709-G-A
gnomAD v3:
11-68938241-G-A
gnomAD v4:
11-68938241-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68938241G>A , CM000673.2:g.68938241G>A | GRCh38 |
| NC_000011.9:g.68705709G>A , CM000673.1:g.68705709G>A | GRCh37 |
| NC_000011.8:g.68462285G>A | NCBI36 |
| NG_007976.1:g.39391G>A , LRG_250:g.39391G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2671G>A MANE Select | ENSP00000255078.4:p.Val891Ile | |
| ENST00000674675.1:c.816G>A | ||
| ENST00000674878.1:c.776G>A | ||
| ENST00000675118.1:c.2159G>A | ||
| ENST00000675615.1:c.2611+1150G>A | ENSP00000502413.1:n.2611+1150G>A | |
| ENST00000675648.1:n.2046G>A | ||
| ENST00000675916.1:c.915G>A | ||
| ENST00000676173.1:n.3416G>A | ||
| ENST00000255078.7:c.2671G>A | ENSP00000255078.3:p.Val891Ile | |
| ENST00000543739.5:n.1664G>A | ||
| ENST00000544521.1:n.502G>A | ||
| NM_002180.2:c.2671G>A , LRG_250t1:c.2671G>A | NP_002171.2:p.Val891Ile | |
| XM_005273974.2:c.1660G>A | XP_005274031.1:p.Val554Ile | |
| XM_005273975.2:c.1543G>A | XP_005274032.1:p.Val515Ile | |
| XM_011544994.1:c.1438G>A | XP_011543296.1:p.Val480Ile | |
| XR_949903.1:n.2773G>A | ||
| XM_005273975.3:c.1543G>A | XP_005274032.1:p.Val515Ile | |
| XM_017017669.2:c.1660G>A | XP_016873158.1:p.Val554Ile | |
| XM_017017670.2:c.1660G>A | XP_016873159.1:p.Val554Ile | |
| XR_949903.3:n.2769G>A | ||
| NM_002180.3:c.2671G>A MANE Select | NP_002171.2:p.Val891Ile |