Linked Data
ClinVar Variation Id:
246412
ClinVar RCV Id:
RCV000235564
dbSNP Id:
rs756289160
ExAC:
11:68703797 G / A
gnomAD v2:
11-68703797-G-A
gnomAD v4:
11-68936329-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936329G>A , CM000673.2:g.68936329G>A | GRCh38 |
| NC_000011.9:g.68703797G>A , CM000673.1:g.68703797G>A | GRCh37 |
| NC_000011.8:g.68460373G>A | NCBI36 |
| NG_007976.1:g.37479G>A , LRG_250:g.37479G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1849G>A MANE Select | ENSP00000255078.4:p.Val617Ile | |
| ENST00000674675.1:c.93G>A | ||
| ENST00000674878.1:c.93G>A | ||
| ENST00000674955.1:c.*566G>A | ENSP00000502463.1:n.*566G>A | |
| ENST00000675118.1:c.1337G>A | ||
| ENST00000675389.1:n.124G>A | ||
| ENST00000675615.1:c.1849G>A | ENSP00000502413.1:p.Val617Ile | |
| ENST00000675648.1:n.1224G>A | ||
| ENST00000675916.1:c.93G>A | ||
| ENST00000676173.1:n.2594G>A | ||
| ENST00000676182.1:c.280G>A | ||
| ENST00000676228.1:c.*1172G>A | ENSP00000502375.1:n.*1172G>A | |
| ENST00000255078.7:c.1849G>A | ENSP00000255078.3:p.Val617Ile | |
| ENST00000539064.5:n.1608G>A | ||
| ENST00000541229.5:n.544G>A | ||
| ENST00000543739.5:n.842G>A | ||
| ENST00000545475.1:n.445G>A | ||
| NM_002180.2:c.1849G>A , LRG_250t1:c.1849G>A | NP_002171.2:p.Val617Ile | |
| XM_005273974.2:c.838G>A | XP_005274031.1:p.Val280Ile | |
| XM_005273975.2:c.721G>A | XP_005274032.1:p.Val241Ile | |
| XM_011544994.1:c.616G>A | XP_011543296.1:p.Val206Ile | |
| XR_949903.1:n.1951G>A | ||
| XM_005273975.3:c.721G>A | XP_005274032.1:p.Val241Ile | |
| XM_017017669.2:c.838G>A | XP_016873158.1:p.Val280Ile | |
| XM_017017670.2:c.838G>A | XP_016873159.1:p.Val280Ile | |
| XR_949903.3:n.1947G>A | ||
| NM_002180.3:c.1849G>A MANE Select | NP_002171.2:p.Val617Ile |