Linked Data
ClinVar Variation Id:
323645
dbSNP Id:
rs143624519
ExAC:
17:44068850 G / A
gnomAD v2:
17-44068850-G-A
gnomAD v3:
17-45991484-G-A
gnomAD v4:
17-45991484-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45991484G>A , CM000679.2:g.45991484G>A | GRCh38 |
| NC_000017.10:g.44068850G>A , CM000679.1:g.44068850G>A | GRCh37 |
| NC_000017.9:g.41424687G>A | NCBI36 |
| NG_007398.1:g.102064G>A | |
| NG_007398.2:g.102022G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420682.7:c.367G>A | ENSP00000413056.2:p.Ala123Thr | |
| ENST00000703922.1:c.367G>A | ENSP00000515557.1:p.Ala123Thr | |
| ENST00000703923.1:c.280G>A | ENSP00000515558.1:p.Ala94Thr | |
| ENST00000703924.1:c.367G>A | ENSP00000515559.1:p.Ala123Thr | |
| ENST00000703977.1:n.519G>A | ||
| ENST00000703978.1:c.454G>A | ENSP00000515600.1:p.Ala152Thr | |
| ENST00000703979.1:n.318G>A | ||
| ENST00000262410.10:c.1630G>A MANE Select | ENSP00000262410.6:p.Ala544Thr | |
| ENST00000344290.10:c.1432G>A | ENSP00000340820.6:p.Ala478Thr | |
| ENST00000351559.10:c.454G>A | ENSP00000303214.7:p.Ala152Thr | |
| ENST00000535772.6:c.367G>A | ENSP00000443028.2:p.Ala123Thr | |
| ENST00000680542.1:c.367G>A | ENSP00000505258.1:p.Ala123Thr | |
| ENST00000680674.1:c.280G>A | ENSP00000505478.1:p.Ala94Thr | |
| ENST00000262410.9:c.1405G>A | ENSP00000262410.5:p.Ala469Thr | |
| ENST00000334239.12:c.280G>A | ENSP00000334886.8:p.Ala94Thr | |
| ENST00000340799.9:c.367G>A | ENSP00000340438.5:p.Ala123Thr | |
| ENST00000344290.9:c.1405G>A | ENSP00000340820.5:p.Ala469Thr | |
| ENST00000351559.9:c.454G>A | ENSP00000303214.7:p.Ala152Thr | |
| ENST00000415613.6:c.1405G>A | ENSP00000410838.2:p.Ala469Thr | |
| ENST00000420682.6:c.367G>A | ENSP00000413056.2:p.Ala123Thr | |
| ENST00000431008.7:c.454G>A | ENSP00000389250.3:p.Ala152Thr | |
| ENST00000446361.7:c.280G>A | ENSP00000408975.3:p.Ala94Thr | |
| ENST00000535772.5:c.454G>A | ENSP00000443028.1:p.Ala152Thr | |
| ENST00000570299.5:n.408G>A | ||
| ENST00000571987.5:c.1405G>A | ENSP00000458742.1:p.Ala469Thr | |
| ENST00000574436.5:c.454G>A | ENSP00000460965.1:p.Ala152Thr | |
| ENST00000576518.1:n.5739G>A | ||
| NM_001123066.3:c.1405G>A | NP_001116538.2:p.Ala469Thr | |
| NM_001123067.3:c.367G>A | NP_001116539.1:p.Ala123Thr | |
| NM_001203251.1:c.367G>A | NP_001190180.1:p.Ala123Thr | |
| NM_001203252.1:c.454G>A | NP_001190181.1:p.Ala152Thr | |
| NM_005910.5:c.454G>A | NP_005901.2:p.Ala152Thr | |
| NM_016834.4:c.280G>A | NP_058518.1:p.Ala94Thr | |
| NM_016835.4:c.1405G>A | NP_058519.3:p.Ala469Thr | |
| NM_016841.4:c.280G>A | NP_058525.1:p.Ala94Thr | |
| XM_005257362.3:c.1717G>A | XP_005257419.1:p.Ala573Thr | |
| XM_005257364.3:c.1630G>A | XP_005257421.1:p.Ala544Thr | |
| XM_005257365.3:c.1717G>A | XP_005257422.1:p.Ala573Thr | |
| XM_005257366.2:c.1543G>A | XP_005257423.1:p.Ala515Thr | |
| XM_005257367.3:c.1519G>A | XP_005257424.1:p.Ala507Thr | |
| XM_005257368.3:c.1519G>A | XP_005257425.1:p.Ala507Thr | |
| XM_005257369.3:c.652G>A | XP_005257426.1:p.Ala218Thr | |
| XM_005257370.3:c.565G>A | XP_005257427.1:p.Ala189Thr | |
| XM_005257371.3:c.478G>A | XP_005257428.1:p.Ala160Thr | |
| XM_005257362.4:c.1717G>A | XP_005257419.1:p.Ala573Thr | |
| XM_005257364.4:c.1630G>A | XP_005257421.1:p.Ala544Thr | |
| XM_005257365.4:c.1717G>A | XP_005257422.1:p.Ala573Thr | |
| XM_005257366.3:c.1543G>A | XP_005257423.1:p.Ala515Thr | |
| XM_005257367.4:c.1519G>A | XP_005257424.1:p.Ala507Thr | |
| XM_005257368.4:c.1519G>A | XP_005257425.1:p.Ala507Thr | |
| XM_005257369.4:c.652G>A | XP_005257426.1:p.Ala218Thr | |
| XM_005257370.4:c.565G>A | XP_005257427.1:p.Ala189Thr | |
| XM_005257371.4:c.478G>A | XP_005257428.1:p.Ala160Thr | |
| NM_001203251.2:c.367G>A | NP_001190180.1:p.Ala123Thr | |
| NM_001377265.1:c.1630G>A MANE Select | NP_001364194.1:p.Ala544Thr | |
| NM_001377266.1:c.1432G>A | NP_001364195.1:p.Ala478Thr | |
| NM_001377267.1:c.367G>A | NP_001364196.1:p.Ala123Thr | |
| NM_001377268.1:c.280G>A | NP_001364197.1:p.Ala94Thr | |
| NM_016834.5:c.280G>A | NP_058518.1:p.Ala94Thr | |
| NM_016841.5:c.280G>A | NP_058525.1:p.Ala94Thr | |
| NR_165166.1:n.517G>A | ||
| NM_001123066.4:c.1405G>A | NP_001116538.2:p.Ala469Thr | |
| NM_001123067.4:c.367G>A | NP_001116539.1:p.Ala123Thr | |
| NM_001203252.2:c.454G>A | NP_001190181.1:p.Ala152Thr | |
| NM_005910.6:c.454G>A | NP_005901.2:p.Ala152Thr | |
| NM_016835.5:c.1405G>A | NP_058519.3:p.Ala469Thr |