Linked Data
dbSNP Id:
rs1589880479
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133366060C>G , CM000672.2:g.133366060C>G | GRCh38 |
| NC_000010.10:g.135179564C>G , CM000672.1:g.135179564C>G | GRCh37 |
| NC_000010.9:g.135029554C>G | NCBI36 |
| NG_042077.1:g.12345G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.655G>C MANE Select | ENSP00000357535.3:p.Val219Leu | |
| ENST00000368547.3:c.655G>C | ENSP00000357535.3:p.Val219Leu | |
| NM_004092.3:c.655G>C | NP_004083.3:p.Val219Leu | |
| XR_002956965.1:n.1511G>C | ||
| NM_004092.4:c.655G>C MANE Select | NP_004083.3:p.Val219Leu |