Linked Data
ClinVar Variation Id:
228321
dbSNP Id:
rs754714105
ExAC:
16:2376202 C / T
gnomAD v2:
16-2376202-C-T
gnomAD v3:
16-2326201-C-T
gnomAD v4:
16-2326201-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2326201C>T , CM000678.2:g.2326201C>T | GRCh38 |
| NC_000016.9:g.2376202C>T , CM000678.1:g.2376202C>T | GRCh37 |
| NC_000016.8:g.2316203C>T | NCBI36 |
| NG_011790.1:g.19546G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301732.10:c.128G>A MANE Select | ENSP00000301732.5:p.Arg43His | |
| ENST00000301732.9:c.128G>A | ENSP00000301732.5:p.Arg43His | |
| ENST00000382381.7:c.128G>A | ENSP00000371818.3:p.Arg43His | |
| ENST00000563623.5:n.691G>A | ||
| ENST00000567910.1:c.128G>A | ENSP00000454397.1:p.Arg43His | |
| NM_001089.2:c.128G>A | NP_001080.2:p.Arg43His | |
| NM_001089.3:c.128G>A MANE Select | NP_001080.2:p.Arg43His |