Linked Data
ClinVar Variation Id:
417908
dbSNP Id:
rs557989446
ExAC:
5:90281179 G / A
gnomAD v2:
5-90281179-G-A
gnomAD v3:
5-90985362-G-A
gnomAD v4:
5-90985362-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90985362G>A , CM000667.2:g.90985362G>A | GRCh38 |
| NC_000005.9:g.90281179G>A , CM000667.1:g.90281179G>A | GRCh37 |
| NC_000005.8:g.90316935G>A | NCBI36 |
| NG_007083.1:g.431563G>A | |
| NG_007083.2:g.461019G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.17992G>A MANE Select | ENSP00000384582.2:p.Val5998Met | |
| ENST00000425867.3:c.6946G>A | ENSP00000392618.3:p.Val2316Met | |
| ENST00000638510.1:n.5259G>A | ||
| ENST00000638990.1:c.1204G>A | ||
| ENST00000639431.1:c.284G>A | ENSP00000491057.1:p.Arg95His | |
| ENST00000639707.1:c.76G>A | ENSP00000492328.1:p.Val26Met | |
| ENST00000639821.1:c.76G>A | ENSP00000492216.1:p.Val26Met | |
| ENST00000640369.1:c.76G>A | ENSP00000491401.1:p.Val26Met | |
| ENST00000640407.1:c.4441G>A | ENSP00000491425.1:n.4441G>A | |
| ENST00000640815.1:c.76G>A | ENSP00000491767.1:p.Val26Met | |
| ENST00000405460.6:c.17992G>A | ENSP00000384582.2:p.Val5998Met | |
| ENST00000425867.2:c.4975G>A | ENSP00000392618.2:p.Val1659Met | |
| NM_032119.3:c.17992G>A | NP_115495.3:p.Val5998Met | |
| NR_003149.1:n.18005G>A | ||
| XM_011543675.1:c.17989G>A | XP_011541977.1:p.Val5997Met | |
| XM_011543676.1:c.17911G>A | XP_011541978.1:p.Val5971Met | |
| XM_011543677.1:c.15295G>A | XP_011541979.1:p.Val5099Met | |
| NM_032119.4:c.17992G>A MANE Select | NP_115495.3:p.Val5998Met | |
| XM_017009963.2:c.18013G>A | XP_016865452.1:p.Val6005Met | |
| XM_017009964.2:c.18010G>A | XP_016865453.1:p.Val6004Met | |
| XM_017009965.1:c.18010G>A | XP_016865454.1:p.Val6004Met | |
| XM_017009966.2:c.17932G>A | XP_016865455.1:p.Val5978Met | |
| XM_017009967.1:c.17917G>A | XP_016865456.1:p.Val5973Met | |
| XM_017009968.2:c.17833G>A | XP_016865457.1:p.Val5945Met | |
| XM_017009969.2:c.18013G>A | XP_016865458.1:p.Val6005Met | |
| XM_017009972.1:c.11131G>A | XP_016865461.1:p.Val3711Met | |
| XM_017009973.1:c.11110G>A | XP_016865462.1:p.Val3704Met | |
| NR_003149.2:n.18008G>A |