Linked Data
ClinVar Variation Id:
1439503
ClinVar RCV Id:
RCV001974971
dbSNP Id:
rs1566445855
gnomAD v2:
11-68703710-G-A
gnomAD v3:
11-68936242-G-A
gnomAD v4:
11-68936242-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936242G>A , CM000673.2:g.68936242G>A | GRCh38 |
| NC_000011.9:g.68703710G>A , CM000673.1:g.68703710G>A | GRCh37 |
| NC_000011.8:g.68460286G>A | NCBI36 |
| NG_007976.1:g.37392G>A , LRG_250:g.37392G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1762G>A MANE Select | ENSP00000255078.4:p.Val588Ile | |
| ENST00000674675.1:c.6G>A | ||
| ENST00000674878.1:c.6G>A | ||
| ENST00000674955.1:c.*479G>A | ENSP00000502463.1:n.*479G>A | |
| ENST00000675118.1:c.1250G>A | ||
| ENST00000675389.1:n.37G>A | ||
| ENST00000675615.1:c.1762G>A | ENSP00000502413.1:p.Val588Ile | |
| ENST00000675648.1:n.1137G>A | ||
| ENST00000675916.1:c.6G>A | ||
| ENST00000676173.1:n.2507G>A | ||
| ENST00000676182.1:c.193G>A | ||
| ENST00000676228.1:c.*1085G>A | ENSP00000502375.1:n.*1085G>A | |
| ENST00000255078.7:c.1762G>A | ENSP00000255078.3:p.Val588Ile | |
| ENST00000539064.5:n.1521G>A | ||
| ENST00000541229.5:n.457G>A | ||
| ENST00000543739.5:n.755G>A | ||
| ENST00000545475.1:n.358G>A | ||
| NM_002180.2:c.1762G>A , LRG_250t1:c.1762G>A | NP_002171.2:p.Val588Ile | |
| XM_005273974.2:c.751G>A | XP_005274031.1:p.Val251Ile | |
| XM_005273975.2:c.634G>A | XP_005274032.1:p.Val212Ile | |
| XM_011544994.1:c.529G>A | XP_011543296.1:p.Val177Ile | |
| XR_949903.1:n.1864G>A | ||
| XM_005273975.3:c.634G>A | XP_005274032.1:p.Val212Ile | |
| XM_017017669.2:c.751G>A | XP_016873158.1:p.Val251Ile | |
| XM_017017670.2:c.751G>A | XP_016873159.1:p.Val251Ile | |
| XR_949903.3:n.1860G>A | ||
| NM_002180.3:c.1762G>A MANE Select | NP_002171.2:p.Val588Ile |