Linked Data
dbSNP Id:
rs754383825
ExAC:
5:90059119 C / T
gnomAD v2:
5-90059119-C-T
gnomAD v3:
5-90763302-C-T
gnomAD v4:
5-90763302-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90763302C>T , CM000667.2:g.90763302C>T | GRCh38 |
| NC_000005.9:g.90059119C>T , CM000667.1:g.90059119C>T | GRCh37 |
| NC_000005.8:g.90094875C>T | NCBI36 |
| NG_007083.1:g.209503C>T | |
| NG_007083.2:g.238959C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12121-3C>T MANE Select | ENSP00000384582.2:n.12121-3C>T | |
| ENST00000425867.3:c.1075-3C>T | ENSP00000392618.3:n.1075-3C>T | |
| ENST00000639431.1:c.265+87093C>T | ENSP00000491057.1:n.265+87093C>T | |
| ENST00000640464.1:n.2540-3C>T | ||
| ENST00000640729.1:n.695C>T | ||
| ENST00000405460.6:c.12121-3C>T | ENSP00000384582.2:n.12121-3C>T | |
| NM_032119.3:c.12121-3C>T | NP_115495.3:n.12121-3C>T | |
| NR_003149.1:n.12134-3C>T | ||
| XM_011543675.1:c.12118-3C>T | XP_011541977.1:n.12118-3C>T | |
| XM_011543676.1:c.12040-3C>T | XP_011541978.1:n.12040-3C>T | |
| XM_011543677.1:c.9424-3C>T | XP_011541979.1:n.9424-3C>T | |
| XM_011543678.1:c.12121-3C>T | XP_011541980.1:n.12121-3C>T | |
| NM_032119.4:c.12121-3C>T MANE Select | NP_115495.3:n.12121-3C>T | |
| XM_017009963.2:c.12142-3C>T | XP_016865452.1:n.12142-3C>T | |
| XM_017009964.2:c.12139-3C>T | XP_016865453.1:n.12139-3C>T | |
| XM_017009965.1:c.12139-3C>T | XP_016865454.1:n.12139-3C>T | |
| XM_017009966.2:c.12061-3C>T | XP_016865455.1:n.12061-3C>T | |
| XM_017009967.1:c.12046-3C>T | XP_016865456.1:n.12046-3C>T | |
| XM_017009968.2:c.12142-3C>T | XP_016865457.1:n.12142-3C>T | |
| XM_017009969.2:c.12142-3C>T | XP_016865458.1:n.12142-3C>T | |
| XM_017009970.2:c.12142-3C>T | XP_016865459.1:n.12142-3C>T | |
| XM_017009971.2:c.12142-3C>T | XP_016865460.1:n.12142-3C>T | |
| XM_017009972.1:c.5260-3C>T | XP_016865461.1:n.5260-3C>T | |
| XM_017009973.1:c.5239-3C>T | XP_016865462.1:n.5239-3C>T | |
| NR_003149.2:n.12137-3C>T |