Linked Data
MyVariant Identifiers:
chr9:g.136509402C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644280C>G , CM000671.2:g.133644280C>G | GRCh38 |
| NC_000009.11:g.136509402C>G , CM000671.1:g.136509402C>G | GRCh37 |
| NC_000009.10:g.135499223C>G | NCBI36 |
| NG_008645.1:g.12918C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.984C>G MANE Select | ENSP00000376776.2:p.Leu328= | |
| ENST00000393056.6:c.984C>G | ENSP00000376776.2:p.Leu328= | |
| NM_000787.3:c.984C>G | NP_000778.3:p.Leu328= | |
| NM_000787.4:c.984C>G MANE Select | NP_000778.3:p.Leu328= |