Linked Data
ClinVar Variation Id:
2952334
ClinVar RCV Id:
RCV003815485
gnomAD v4:
9-99221667-C-G
MyVariant Identifiers:
chr9:g.101983949C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99221667C>G , CM000671.2:g.99221667C>G | GRCh38 |
| NC_000009.11:g.101983949C>G , CM000671.1:g.101983949C>G | GRCh37 |
| NC_000009.10:g.101023770C>G | NCBI36 |
| NG_008928.1:g.5298G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.228G>C MANE Select | ENSP00000417764.1:p.Pro76= | |
| ENST00000238477.5:c.228G>C | ENSP00000432675.2:p.Pro76= | |
| ENST00000476832.1:c.228G>C | ENSP00000417764.1:p.Pro76= | |
| NM_033087.3:c.228G>C | NP_149078.1:p.Pro76= | |
| NR_024532.1:n.298G>C | ||
| NM_033087.4:c.228G>C MANE Select | NP_149078.1:p.Pro76= | |
| NR_024532.2:n.276G>C |