Linked Data
MyVariant Identifiers:
chr18:g.58038719G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371486G>C , CM000680.2:g.60371486G>C | GRCh38 |
| NC_000018.9:g.58038719G>C , CM000680.1:g.58038719G>C | GRCh37 |
| NC_000018.8:g.56189699G>C | NCBI36 |
| NG_016441.1:g.6283C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.864C>G MANE Select | ENSP00000299766.3:p.Leu288= | |
| ENST00000299766.4:c.864C>G | ENSP00000299766.3:p.Leu288= | |
| NM_005912.2:c.864C>G | NP_005903.2:p.Leu288= | |
| NM_005912.3:c.864C>G MANE Select | NP_005903.2:p.Leu288= |