Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177063T>G , CM000678.2:g.177063T>G | GRCh38 |
| NC_000016.9:g.227062T>G , CM000678.1:g.227062T>G | GRCh37 |
| NC_000016.8:g.167062T>G | NCBI36 |
| NG_000006.1:g.37926T>G | |
| NG_059186.1:g.5413T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.230T>G MANE Select | NP_000549.1:p.Met77Arg |
| ENST00000320868.9:c.230T>G MANE Select | ENSP00000322421.5:p.Met77Arg |
| NM_000558.4:c.230T>G | NP_000549.1:p.Met77Arg |
| ENST00000397797.1:c.134T>G | ENSP00000380899.1:p.Met45Arg |
| ENST00000472694.1:n.366T>G | |
| ENST00000487791.1:n.199T>G |