Linked Data
ClinVar Variation Id:
318506
dbSNP Id:
rs377539769
ExAC:
16:2350033 C / T
gnomAD v2:
16-2350033-C-T
gnomAD v3:
16-2300032-C-T
gnomAD v4:
16-2300032-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2300032C>T , CM000678.2:g.2300032C>T | GRCh38 |
| NC_000016.9:g.2350033C>T , CM000678.1:g.2350033C>T | GRCh37 |
| NC_000016.8:g.2290034C>T | NCBI36 |
| NG_011790.1:g.45715G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.1584G>A MANE Select | ENSP00000301732.5:p.Ala528= | |
| ENST00000301732.9:c.1584G>A | ENSP00000301732.5:p.Ala528= | |
| ENST00000382381.7:c.1410G>A | ENSP00000371818.3:p.Ala470= | |
| ENST00000563623.5:n.2147G>A | ||
| NM_001089.2:c.1584G>A | NP_001080.2:p.Ala528= | |
| NM_001089.3:c.1584G>A MANE Select | NP_001080.2:p.Ala528= |