Linked Data
ClinVar Variation Id:
318378
dbSNP Id:
rs72647547
gnomAD v2:
16-23227988-A-T
gnomAD v3:
16-23216667-A-T
gnomAD v4:
16-23216667-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23216667A>T , CM000678.2:g.23216667A>T | GRCh38 |
| NC_000016.9:g.23227988A>T , CM000678.1:g.23227988A>T | GRCh37 |
| NC_000016.8:g.23135489A>T | NCBI36 |
| NG_011909.1:g.38949A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300061.3:c.*1198A>T MANE Select | ENSP00000300061.2:n.*1198A>T | |
| ENST00000300061.2:c.*1198A>T | ENSP00000300061.2:n.*1198A>T | |
| NM_001039.3:c.*1198A>T | NP_001030.2:n.*1198A>T | |
| NM_001039.4:c.*1198A>T MANE Select | NP_001030.2:n.*1198A>T |