Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67878198G>A , CM000678.2:g.67878198G>A | GRCh38 |
| NC_000016.9:g.67912101G>A , CM000678.1:g.67912101G>A | GRCh37 |
| NC_000016.8:g.66469602G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358933.10:c.927G>A MANE Select | ENSP00000351811.5:p.Gly309= | |
| ENST00000358933.9:c.927G>A | ENSP00000351811.5:p.Gly309= | |
| ENST00000536072.6:n.932G>A | ||
| ENST00000572221.5:n.1641G>A | ||
| ENST00000573992.5:n.306G>A | ||
| ENST00000574770.5:n.691G>A | ||
| NM_014329.4:c.927G>A | NP_055144.3:p.Gly309= | |
| NM_014329.5:c.927G>A MANE Select | NP_055144.3:p.Gly309= |