Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.89164810A>C , CM000663.2:g.89164810A>C | GRCh38 |
| NC_000001.10:g.89630493A>C , CM000663.1:g.89630493A>C | GRCh37 |
| NC_000001.9:g.89403081A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294671.3:c.239T>G MANE Select | ENSP00000294671.2:p.Met80Arg | |
| ENST00000650452.1:c.239T>G | ENSP00000496924.1:p.Met80Arg | |
| ENST00000294671.2:c.239T>G | ENSP00000294671.2:p.Met80Arg | |
| NM_207398.2:c.239T>G | NP_997281.2:p.Met80Arg | |
| XR_947579.1:n.534-14509A>C | ||
| XR_947579.2:n.534-14509A>C | ||
| NM_207398.3:c.239T>G MANE Select | NP_997281.2:p.Met80Arg |