Linked Data
ClinVar Variation Id:
15803
ClinVar RCV Id:
RCV001275686
dbSNP Id:
rs33984024
ExAC:
16:227025 G / C
gnomAD v2:
16-227025-G-C
gnomAD v4:
16-177026-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177026G>C , CM000678.2:g.177026G>C | GRCh38 |
| NC_000016.9:g.227025G>C , CM000678.1:g.227025G>C | GRCh37 |
| NC_000016.8:g.167025G>C | NCBI36 |
| NG_000006.1:g.37889G>C | |
| NG_059186.1:g.5376G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.193G>C MANE Select | ENSP00000322421.5:p.Asp65His | |
| ENST00000397797.1:c.97G>C | ENSP00000380899.1:p.Asp33His | |
| ENST00000472694.1:n.329G>C | ||
| ENST00000487791.1:n.162G>C | ||
| NM_000558.4:c.193G>C | NP_000549.1:p.Asp65His | |
| NM_000558.5:c.193G>C MANE Select | NP_000549.1:p.Asp65His |