Linked Data
ClinVar Variation Id:
365315
dbSNP Id:
rs886063549
gnomAD v3:
9-132262797-A-C
gnomAD v4:
9-132262797-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132262797A>C , CM000671.2:g.132262797A>C | GRCh38 |
| NC_000009.11:g.135138184A>C , CM000671.1:g.135138184A>C | GRCh37 |
| NC_000009.10:g.134128005A>C | NCBI36 |
| NG_007946.1:g.97189T>G , LRG_268:g.97189T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224140.6:c.*1442T>G MANE Select | ENSP00000224140.5:n.*1442T>G | |
| ENST00000224140.5:c.*1442T>G | ENSP00000224140.5:n.*1442T>G | |
| ENST00000436441.5:c.4289T>G | ENSP00000409143.1:n.4289T>G | |
| ENST00000477049.1:n.2626T>G | ||
| NM_015046.5:c.*1442T>G , LRG_268t1:c.*1442T>G | NP_055861.3:n.*1442T>G | |
| XM_005272171.1:c.*1442T>G | XP_005272228.1:n.*1442T>G | |
| XM_005272172.1:c.*1442T>G | XP_005272229.1:n.*1442T>G | |
| XM_005272173.1:c.*1442T>G | XP_005272230.1:n.*1442T>G | |
| XM_011518404.1:c.*1442T>G | XP_011516706.1:n.*1442T>G | |
| XM_011518405.1:c.*1442T>G | XP_011516707.1:n.*1442T>G | |
| XR_929739.1:n.9392T>G | ||
| NM_001351527.1:c.*1442T>G | NP_001338456.1:n.*1442T>G | |
| NM_001351528.1:c.*1442T>G | NP_001338457.1:n.*1442T>G | |
| NM_015046.6:c.*1442T>G | NP_055861.3:n.*1442T>G | |
| XM_017014496.1:c.*1442T>G | XP_016869985.1:n.*1442T>G | |
| XR_001746251.1:n.9031T>G | ||
| XR_929739.2:n.9392T>G | ||
| NM_015046.7:c.*1442T>G MANE Select | NP_055861.3:n.*1442T>G | |
| NM_001351528.2:c.*1442T>G | NP_001338457.1:n.*1442T>G | |
| NM_001351527.2:c.*1442T>G | NP_001338456.1:n.*1442T>G |