Linked Data
dbSNP Id:
rs1248936515
gnomAD v2:
18-55833047-G-A
gnomAD v3:
18-58165815-G-A
gnomAD v4:
18-58165815-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.58165815G>A , CM000680.2:g.58165815G>A | GRCh38 |
| NC_000018.9:g.55833047G>A , CM000680.1:g.55833047G>A | GRCh37 |
| NC_000018.8:g.53984045G>A | NCBI36 |
| NG_029954.1:g.126438G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400345.8:c.76G>A MANE Select | ENSP00000383199.2:p.Val26Ile | |
| ENST00000585594.6:n.53G>A | ||
| ENST00000674613.1:n.98-79612G>A | ||
| ENST00000674845.1:c.*582G>A | ENSP00000502309.1:n.*582G>A | |
| ENST00000675137.1:n.198G>A | ||
| ENST00000675147.1:c.55G>A | ENSP00000501840.1:p.Val19Ile | |
| ENST00000675502.1:c.-288G>A | ENSP00000502428.1:n.-288G>A | |
| ENST00000675801.1:c.-288G>A | ENSP00000502688.1:n.-288G>A | |
| ENST00000676024.1:c.76G>A | ENSP00000502105.1:p.Val26Ile | |
| ENST00000676223.1:c.37G>A | ENSP00000502361.1:p.Val13Ile | |
| ENST00000256830.13:c.76G>A | ENSP00000256830.8:p.Val26Ile | |
| ENST00000356462.10:c.76G>A | ENSP00000348847.5:p.Val26Ile | |
| ENST00000357895.9:c.52G>A | ENSP00000350569.4:p.Val18Ile | |
| ENST00000382850.8:c.76G>A | ENSP00000372301.3:p.Val26Ile | |
| ENST00000400345.7:c.76G>A | ENSP00000383199.2:p.Val26Ile | |
| ENST00000435432.6:c.-366G>A | ENSP00000393395.1:n.-366G>A | |
| ENST00000456986.5:c.-288G>A | ENSP00000411947.1:n.-288G>A | |
| ENST00000585363.5:n.113G>A | ||
| ENST00000585594.5:n.196G>A | ||
| ENST00000586263.5:c.52G>A | ENSP00000468546.1:p.Val18Ile | |
| ENST00000587547.1:n.865G>A | ||
| ENST00000588516.5:n.1176G>A | ||
| ENST00000589054.5:c.48+121107G>A | ENSP00000465669.1:n.48+121107G>A | |
| ENST00000590694.5:n.119G>A | ||
| ENST00000591579.5:n.120G>A | ||
| ENST00000591989.5:n.124G>A | ||
| ENST00000592846.5:c.-347G>A | ENSP00000466776.1:n.-347G>A | |
| NM_001144964.1:c.-288G>A | NP_001138436.1:n.-288G>A | |
| NM_001144965.1:c.-288G>A | NP_001138437.1:n.-288G>A | |
| NM_001144967.2:c.76G>A | NP_001138439.1:p.Val26Ile | |
| NM_001144968.1:c.52G>A | NP_001138440.1:p.Val18Ile | |
| NM_001144969.1:c.52G>A | NP_001138441.1:p.Val18Ile | |
| NM_001144971.1:c.-366G>A | NP_001138443.1:n.-366G>A | |
| NM_001243960.1:c.76G>A | NP_001230889.1:p.Val26Ile | |
| NM_015277.5:c.76G>A | NP_056092.2:p.Val26Ile | |
| XM_006722426.2:c.76G>A | XP_006722489.1:p.Val26Ile | |
| XM_006722428.2:c.76G>A | XP_006722491.1:p.Val26Ile | |
| XM_011525887.1:c.52G>A | XP_011524189.1:p.Val18Ile | |
| XM_006722426.4:c.76G>A | XP_006722489.1:p.Val26Ile | |
| XM_006722428.4:c.76G>A | XP_006722491.1:p.Val26Ile | |
| XM_011525887.3:c.52G>A | XP_011524189.1:p.Val18Ile | |
| XM_017025678.2:c.76G>A | XP_016881167.1:p.Val26Ile | |
| XM_024451129.1:c.-366G>A | XP_024306897.1:n.-366G>A | |
| XM_024451131.1:c.-288G>A | XP_024306899.1:n.-288G>A | |
| XM_024451134.1:c.-347G>A | XP_024306902.1:n.-347G>A | |
| XM_024451135.1:c.-288G>A | XP_024306903.1:n.-288G>A | |
| XM_024451136.1:c.-288G>A | XP_024306904.1:n.-288G>A | |
| XM_024451137.1:c.-366G>A | XP_024306905.1:n.-366G>A | |
| NM_001144967.3:c.76G>A MANE Select | NP_001138439.1:p.Val26Ile | |
| NM_001144965.2:c.-288G>A | NP_001138437.1:n.-288G>A | |
| NM_001144968.2:c.52G>A | NP_001138440.1:p.Val18Ile | |
| NM_001144969.2:c.52G>A | NP_001138441.1:p.Val18Ile | |
| NM_001144971.2:c.-366G>A | NP_001138443.1:n.-366G>A | |
| NM_001243960.2:c.76G>A | NP_001230889.1:p.Val26Ile | |
| NM_015277.6:c.76G>A | NP_056092.2:p.Val26Ile |