Linked Data
dbSNP Id:
rs747623882
ExAC:
5:90059128 A / T
gnomAD v2:
5-90059128-A-T
gnomAD v3:
5-90763311-A-T
gnomAD v4:
5-90763311-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90763311A>T , CM000667.2:g.90763311A>T | GRCh38 |
| NC_000005.9:g.90059128A>T , CM000667.1:g.90059128A>T | GRCh37 |
| NC_000005.8:g.90094884A>T | NCBI36 |
| NG_007083.1:g.209512A>T | |
| NG_007083.2:g.238968A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12127A>T MANE Select | ENSP00000384582.2:p.Ile4043Phe | |
| ENST00000425867.3:c.1081A>T | ENSP00000392618.3:p.Ile361Phe | |
| ENST00000639431.1:c.265+87102A>T | ENSP00000491057.1:n.265+87102A>T | |
| ENST00000640464.1:n.2546A>T | ||
| ENST00000640729.1:n.704A>T | ||
| ENST00000405460.6:c.12127A>T | ENSP00000384582.2:p.Ile4043Phe | |
| NM_032119.3:c.12127A>T | NP_115495.3:p.Ile4043Phe | |
| NR_003149.1:n.12140A>T | ||
| XM_011543675.1:c.12124A>T | XP_011541977.1:p.Ile4042Phe | |
| XM_011543676.1:c.12046A>T | XP_011541978.1:p.Ile4016Phe | |
| XM_011543677.1:c.9430A>T | XP_011541979.1:p.Ile3144Phe | |
| XM_011543678.1:c.12127A>T | XP_011541980.1:p.Ile4043Phe | |
| NM_032119.4:c.12127A>T MANE Select | NP_115495.3:p.Ile4043Phe | |
| XM_017009963.2:c.12148A>T | XP_016865452.1:p.Ile4050Phe | |
| XM_017009964.2:c.12145A>T | XP_016865453.1:p.Ile4049Phe | |
| XM_017009965.1:c.12145A>T | XP_016865454.1:p.Ile4049Phe | |
| XM_017009966.2:c.12067A>T | XP_016865455.1:p.Ile4023Phe | |
| XM_017009967.1:c.12052A>T | XP_016865456.1:p.Ile4018Phe | |
| XM_017009968.2:c.12148A>T | XP_016865457.1:p.Ile4050Phe | |
| XM_017009969.2:c.12148A>T | XP_016865458.1:p.Ile4050Phe | |
| XM_017009970.2:c.12148A>T | XP_016865459.1:p.Ile4050Phe | |
| XM_017009971.2:c.12148A>T | XP_016865460.1:p.Ile4050Phe | |
| XM_017009972.1:c.5266A>T | XP_016865461.1:p.Ile1756Phe | |
| XM_017009973.1:c.5245A>T | XP_016865462.1:p.Ile1749Phe | |
| NR_003149.2:n.12143A>T |