Linked Data
ClinVar Variation Id:
444782
dbSNP Id:
rs771691157
ExAC:
9:135187196 C / A
gnomAD v2:
9-135187196-C-A
gnomAD v4:
9-132311809-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132311809C>A , CM000671.2:g.132311809C>A | GRCh38 |
| NC_000009.11:g.135187196C>A , CM000671.1:g.135187196C>A | GRCh37 |
| NC_000009.10:g.134177017C>A | NCBI36 |
| NG_007946.1:g.48177G>T , LRG_268:g.48177G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224140.6:c.5322G>T MANE Select | ENSP00000224140.5:p.Gln1774His | |
| ENST00000224140.5:c.5322G>T | ENSP00000224140.5:p.Gln1774His | |
| ENST00000436441.5:c.48G>T | ENSP00000409143.1:p.Gln16His | |
| NM_015046.5:c.5322G>T , LRG_268t1:c.5322G>T | NP_055861.3:p.Gln1774His | |
| XM_005272171.1:c.5322G>T | XP_005272228.1:p.Gln1774His | |
| XM_005272172.1:c.5322G>T | XP_005272229.1:p.Gln1774His | |
| XM_005272173.1:c.5322G>T | XP_005272230.1:p.Gln1774His | |
| XM_011518404.1:c.5322G>T | XP_011516706.1:p.Gln1774His | |
| XM_011518405.1:c.5322G>T | XP_011516707.1:p.Gln1774His | |
| XM_011518406.1:c.5322G>T | XP_011516708.1:p.Gln1774His | |
| XM_011518407.1:c.5322G>T | XP_011516709.1:p.Gln1774His | |
| XM_011518408.1:c.5322G>T | XP_011516710.1:p.Gln1774His | |
| XR_929739.1:n.5238G>T | ||
| NM_001351527.1:c.5322G>T | NP_001338456.1:p.Gln1774His | |
| NM_001351528.1:c.5322G>T | NP_001338457.1:p.Gln1774His | |
| NM_015046.6:c.5322G>T | NP_055861.3:p.Gln1774His | |
| XM_005272172.3:c.5322G>T | XP_005272229.1:p.Gln1774His | |
| XM_005272173.3:c.5322G>T | XP_005272230.1:p.Gln1774His | |
| XM_011518404.3:c.5322G>T | XP_011516706.1:p.Gln1774His | |
| XM_011518405.3:c.5322G>T | XP_011516707.1:p.Gln1774His | |
| XM_011518406.2:c.5322G>T | XP_011516708.1:p.Gln1774His | |
| XM_011518408.3:c.5322G>T | XP_011516710.1:p.Gln1774His | |
| XM_017014496.1:c.-226G>T | XP_016869985.1:n.-226G>T | |
| XR_001746251.1:n.4877G>T | ||
| XR_929739.2:n.5238G>T | ||
| NM_015046.7:c.5322G>T MANE Select | NP_055861.3:p.Gln1774His | |
| NM_001351528.2:c.5322G>T | NP_001338457.1:p.Gln1774His | |
| NM_001351527.2:c.5322G>T | NP_001338456.1:p.Gln1774His |