Linked Data
dbSNP Id:
rs369762787
ExAC:
5:90119296 C / A
gnomAD v2:
5-90119296-C-A
gnomAD v3:
5-90823479-C-A
gnomAD v4:
5-90823479-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823479C>A , CM000667.2:g.90823479C>A | GRCh38 |
| NC_000005.9:g.90119296C>A , CM000667.1:g.90119296C>A | GRCh37 |
| NC_000005.8:g.90155052C>A | NCBI36 |
| NG_007083.1:g.269680C>A | |
| NG_007083.2:g.299136C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.16251C>A MANE Select | ENSP00000384582.2:p.Val5417= | |
| ENST00000425867.3:c.5205C>A | ENSP00000392618.3:p.Val1735= | |
| ENST00000638510.1:n.3518C>A | ||
| ENST00000639431.1:c.265+147270C>A | ENSP00000491057.1:n.265+147270C>A | |
| ENST00000640061.1:n.128+1297C>A | ||
| ENST00000640407.1:c.2661C>A | ENSP00000491425.1:p.Val887= | |
| ENST00000405460.6:c.16251C>A | ENSP00000384582.2:p.Val5417= | |
| ENST00000425867.2:c.3234C>A | ENSP00000392618.2:p.Val1078= | |
| NM_032119.3:c.16251C>A | NP_115495.3:p.Val5417= | |
| NR_003149.1:n.16264C>A | ||
| XM_011543675.1:c.16248C>A | XP_011541977.1:p.Val5416= | |
| XM_011543676.1:c.16170C>A | XP_011541978.1:p.Val5390= | |
| XM_011543677.1:c.13554C>A | XP_011541979.1:p.Val4518= | |
| NM_032119.4:c.16251C>A MANE Select | NP_115495.3:p.Val5417= | |
| XM_017009963.2:c.16272C>A | XP_016865452.1:p.Val5424= | |
| XM_017009964.2:c.16269C>A | XP_016865453.1:p.Val5423= | |
| XM_017009965.1:c.16269C>A | XP_016865454.1:p.Val5423= | |
| XM_017009966.2:c.16191C>A | XP_016865455.1:p.Val5397= | |
| XM_017009967.1:c.16176C>A | XP_016865456.1:p.Val5392= | |
| XM_017009968.2:c.16092C>A | XP_016865457.1:p.Val5364= | |
| XM_017009969.2:c.16272C>A | XP_016865458.1:p.Val5424= | |
| XM_017009972.1:c.9390C>A | XP_016865461.1:p.Val3130= | |
| XM_017009973.1:c.9369C>A | XP_016865462.1:p.Val3123= | |
| NR_003149.2:n.16267C>A |