Linked Data
dbSNP Id:
rs761641189
ExAC:
7:70242124 C / A
gnomAD v2:
7-70242124-C-A
gnomAD v4:
7-70777138-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70777138C>A , CM000669.2:g.70777138C>A | GRCh38 |
| NC_000007.13:g.70242124C>A , CM000669.1:g.70242124C>A | GRCh37 |
| NC_000007.12:g.69880060C>A | NCBI36 |
| NG_034133.1:g.1183220C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700075.1:c.36C>A | ENSP00000514784.1:p.Ile12= | |
| ENST00000342771.10:c.1968C>A MANE Select | ENSP00000344087.4:p.Ile656= | |
| ENST00000439256.2:c.66C>A | ENSP00000407058.2:p.Ile22= | |
| ENST00000443672.2:c.303C>A | ENSP00000393548.2:p.Ile101= | |
| ENST00000449547.6:c.61C>A | ||
| ENST00000464768.2:n.636C>A | ||
| ENST00000644359.1:c.549C>A | ENSP00000494561.1:p.Ile183= | |
| ENST00000644506.1:c.594C>A | ENSP00000496672.1:p.Ile198= | |
| ENST00000644939.1:c.1965C>A | ENSP00000496726.1:p.Ile655= | |
| ENST00000646136.1:n.279C>A | ||
| ENST00000647140.1:c.833C>A | ||
| ENST00000342771.8:c.1968C>A | ENSP00000344087.4:p.Ile656= | |
| ENST00000406775.6:c.1896C>A | ENSP00000385263.2:p.Ile632= | |
| ENST00000439256.1:c.66C>A | ||
| ENST00000464768.1:n.634C>A | ||
| ENST00000465899.1:n.465C>A | ||
| ENST00000498384.5:n.336C>A | ||
| ENST00000611706.4:c.1224C>A | ENSP00000478134.1:p.Ile408= | |
| ENST00000615871.4:c.1152C>A | ENSP00000479325.1:p.Ile384= | |
| NM_001127231.2:c.1896C>A | NP_001120703.1:p.Ile632= | |
| NM_015570.3:c.1968C>A | NP_056385.1:p.Ile656= | |
| XM_005250257.1:c.615C>A | XP_005250314.1:p.Ile205= | |
| XM_011516010.1:c.1989C>A | XP_011514312.1:p.Ile663= | |
| XM_011516011.1:c.1986C>A | XP_011514313.1:p.Ile662= | |
| XM_011516012.1:c.1923C>A | XP_011514314.1:p.Ile641= | |
| XM_011516013.1:c.1917C>A | XP_011514315.1:p.Ile639= | |
| XM_011516014.1:c.1887C>A | XP_011514316.1:p.Ile629= | |
| XM_011516015.1:c.1725C>A | XP_011514317.1:p.Ile575= | |
| XM_011516016.1:c.1698C>A | XP_011514318.1:p.Ile566= | |
| XM_011516017.1:c.1515C>A | XP_011514319.1:p.Ile505= | |
| XM_011516018.1:c.1488C>A | XP_011514320.1:p.Ile496= | |
| XM_005250257.2:c.615C>A | XP_005250314.1:p.Ile205= | |
| XM_011516010.2:c.1989C>A | XP_011514312.1:p.Ile663= | |
| XM_011516011.2:c.1986C>A | XP_011514313.1:p.Ile662= | |
| XM_011516012.2:c.1923C>A | XP_011514314.1:p.Ile641= | |
| XM_011516013.2:c.1917C>A | XP_011514315.1:p.Ile639= | |
| XM_011516014.2:c.1887C>A | XP_011514316.1:p.Ile629= | |
| XM_011516017.2:c.1515C>A | XP_011514319.1:p.Ile505= | |
| XM_011516018.2:c.1488C>A | XP_011514320.1:p.Ile496= | |
| XM_017011951.2:c.1989C>A | XP_016867440.1:p.Ile663= | |
| NM_001127231.3:c.1896C>A | NP_001120703.1:p.Ile632= | |
| NM_015570.4:c.1968C>A MANE Select | NP_056385.1:p.Ile656= |