Linked Data
ClinVar Variation Id:
318380
dbSNP Id:
rs72647549
gnomAD v2:
16-23228159-C-T
gnomAD v3:
16-23216838-C-T
gnomAD v4:
16-23216838-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23216838C>T , CM000678.2:g.23216838C>T | GRCh38 |
| NC_000016.9:g.23228159C>T , CM000678.1:g.23228159C>T | GRCh37 |
| NC_000016.8:g.23135660C>T | NCBI36 |
| NG_011909.1:g.39120C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300061.3:c.*1369C>T MANE Select | ENSP00000300061.2:n.*1369C>T | |
| ENST00000300061.2:c.*1369C>T | ENSP00000300061.2:n.*1369C>T | |
| NM_001039.3:c.*1369C>T | NP_001030.2:n.*1369C>T | |
| NM_001039.4:c.*1369C>T MANE Select | NP_001030.2:n.*1369C>T |