Linked Data
ClinVar Variation Id:
256922
dbSNP Id:
rs373854628
ExAC:
16:2139872 G / A
gnomAD v2:
16-2139872-G-A
gnomAD v3:
16-2089871-G-A
gnomAD v4:
16-2089871-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2089871G>A , CM000678.2:g.2089871G>A | GRCh38 |
| NC_000016.9:g.2139872G>A , CM000678.1:g.2139872G>A | GRCh37 |
| NC_000016.8:g.2079873G>A | NCBI36 |
| NG_005895.1:g.45566G>A , LRG_487:g.45566G>A | |
| NG_008617.1:g.53350C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.12768C>T MANE Select | ENSP00000262304.4:p.Ala4256= | |
| ENST00000262304.8:c.12768C>T | ENSP00000262304.4:p.Ala4256= | |
| ENST00000423118.5:c.12765C>T | ENSP00000399501.1:p.Ala4255= | |
| ENST00000472577.1:n.796C>T | ||
| NM_000296.3:c.12765C>T | NP_000287.3:p.Ala4255= | |
| NM_001009944.2:c.12768C>T | NP_001009944.2:p.Ala4256= | |
| XM_005255370.2:c.9723C>T | XP_005255427.1:p.Ala3241= | |
| XM_011522525.1:c.12846C>T | XP_011520827.1:p.Ala4282= | |
| XM_011522526.1:c.12843C>T | XP_011520828.1:p.Ala4281= | |
| XM_011522527.1:c.12828C>T | XP_011520829.1:p.Ala4276= | |
| XM_011522528.1:c.12822C>T | XP_011520830.1:p.Ala4274= | |
| XM_011522529.1:c.12819C>T | XP_011520831.1:p.Ala4273= | |
| XM_011522530.1:c.12792C>T | XP_011520832.1:p.Ala4264= | |
| XM_011522531.1:c.12774C>T | XP_011520833.1:p.Ala4258= | |
| XM_011522532.1:c.12720C>T | XP_011520834.1:p.Ala4240= | |
| XM_011522533.1:c.12639C>T | XP_011520835.1:p.Ala4213= | |
| XM_011522534.1:c.12582C>T | XP_011520836.1:p.Ala4194= | |
| XM_011522535.1:c.10668C>T | XP_011520837.1:p.Ala3556= | |
| XM_011522537.1:c.9846C>T | XP_011520839.1:p.Ala3282= | |
| XM_005255370.3:c.9723C>T | XP_005255427.1:p.Ala3241= | |
| XM_011522528.3:c.12822C>T | XP_011520830.1:p.Ala4274= | |
| XM_011522529.2:c.12819C>T | XP_011520831.1:p.Ala4273= | |
| XM_011522537.2:c.9846C>T | XP_011520839.1:p.Ala3282= | |
| XM_024450298.1:c.12888C>T | XP_024306066.1:p.Ala4296= | |
| XM_024450299.1:c.12816C>T | XP_024306067.1:p.Ala4272= | |
| XM_024450300.1:c.12678C>T | XP_024306068.1:p.Ala4226= | |
| XM_024450301.1:c.10764C>T | XP_024306069.1:p.Ala3588= | |
| NM_000296.4:c.12765C>T | NP_000287.4:p.Ala4255= | |
| NM_001009944.3:c.12768C>T MANE Select | NP_001009944.3:p.Ala4256= |