Linked Data
ClinVar Variation Id:
15804
ClinVar RCV Id:
RCV000017145
dbSNP Id:
rs33977363
gnomAD v4:
16-177059-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177059G>C , CM000678.2:g.177059G>C | GRCh38 |
| NC_000016.9:g.227058G>C , CM000678.1:g.227058G>C | GRCh37 |
| NC_000016.8:g.167058G>C | NCBI36 |
| NG_000006.1:g.37922G>C | |
| NG_059186.1:g.5409G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.226G>C MANE Select | ENSP00000322421.5:p.Asp76His | |
| ENST00000397797.1:c.130G>C | ENSP00000380899.1:p.Asp44His | |
| ENST00000472694.1:n.362G>C | ||
| ENST00000487791.1:n.195G>C | ||
| NM_000558.4:c.226G>C | NP_000549.1:p.Asp76His | |
| NM_000558.5:c.226G>C MANE Select | NP_000549.1:p.Asp76His |