Linked Data
ClinVar Variation Id:
318366
dbSNP Id:
rs56153525
gnomAD v2:
16-23227118-G-A
gnomAD v3:
16-23215797-G-A
gnomAD v4:
16-23215797-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23215797G>A , CM000678.2:g.23215797G>A | GRCh38 |
| NC_000016.9:g.23227118G>A , CM000678.1:g.23227118G>A | GRCh37 |
| NC_000016.8:g.23134619G>A | NCBI36 |
| NG_011909.1:g.38079G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300061.3:c.*328G>A MANE Select | ENSP00000300061.2:n.*328G>A | |
| ENST00000300061.2:c.*328G>A | ENSP00000300061.2:n.*328G>A | |
| NM_001039.3:c.*328G>A | NP_001030.2:n.*328G>A | |
| NM_001039.4:c.*328G>A MANE Select | NP_001030.2:n.*328G>A |