Linked Data
ClinVar Variation Id:
2143174
ClinVar RCV Id:
RCV003076592
dbSNP Id:
rs754499878
ExAC:
9:101983942 G / C
gnomAD v2:
9-101983942-G-C
gnomAD v4:
9-99221660-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99221660G>C , CM000671.2:g.99221660G>C | GRCh38 |
| NC_000009.11:g.101983942G>C , CM000671.1:g.101983942G>C | GRCh37 |
| NC_000009.10:g.101023763G>C | NCBI36 |
| NG_008928.1:g.5305C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.235C>G MANE Select | ENSP00000417764.1:p.Leu79Val | |
| ENST00000238477.5:c.235C>G | ENSP00000432675.2:p.Leu79Val | |
| ENST00000476832.1:c.235C>G | ENSP00000417764.1:p.Leu79Val | |
| NM_033087.3:c.235C>G | NP_149078.1:p.Leu79Val | |
| NR_024532.1:n.305C>G | ||
| NM_033087.4:c.235C>G MANE Select | NP_149078.1:p.Leu79Val | |
| NR_024532.2:n.283C>G |