Linked Data
MyVariant Identifiers:
chr18:g.58038658G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371425G>A , CM000680.2:g.60371425G>A | GRCh38 |
| NC_000018.9:g.58038658G>A , CM000680.1:g.58038658G>A | GRCh37 |
| NC_000018.8:g.56189638G>A | NCBI36 |
| NG_016441.1:g.6344C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.925C>T MANE Select | ENSP00000299766.3:p.Leu309= | |
| ENST00000299766.4:c.925C>T | ENSP00000299766.3:p.Leu309= | |
| NM_005912.2:c.925C>T | NP_005903.2:p.Leu309= | |
| NM_005912.3:c.925C>T MANE Select | NP_005903.2:p.Leu309= |