Linked Data
ClinVar Variation Id:
3032231
ClinVar RCV Id:
RCV003901923
dbSNP Id:
rs758429732
ExAC:
16:223600 G / C
gnomAD v2:
16-223600-G-C
gnomAD v3:
16-173601-G-C
gnomAD v4:
16-173601-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173601G>C , CM000678.2:g.173601G>C | GRCh38 |
| NC_000016.9:g.223600G>C , CM000678.1:g.223600G>C | GRCh37 |
| NC_000016.8:g.163600G>C | NCBI36 |
| NG_000006.1:g.34464G>C | |
| NG_059186.1:g.1951G>C | |
| NG_059271.1:g.5755G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.*1G>C MANE Select | ENSP00000251595.6:n.*1G>C | |
| ENST00000251595.10:c.*1G>C | ENSP00000251595.6:n.*1G>C | |
| ENST00000397806.1:c.*1G>C | ENSP00000380908.1:n.*1G>C | |
| ENST00000482565.1:n.566G>C | ||
| NM_000517.4:c.*1G>C | NP_000508.1:n.*1G>C | |
| NM_000517.6:c.*1G>C MANE Select | NP_000508.1:n.*1G>C |