Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56639916A>G , CM000678.2:g.56639916A>G | GRCh38 |
| NC_000016.9:g.56673828A>G , CM000678.1:g.56673828A>G | GRCh37 |
| NC_000016.8:g.55231329A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005946.3:c.152A>G MANE Select | NP_005937.2:p.Lys51Arg |
| ENST00000290705.12:c.152A>G MANE Select | ENSP00000290705.8:p.Lys51Arg |
| NM_005946.2:c.152A>G | NP_005937.2:p.Lys51Arg |
| ENST00000622334.1:c.152A>G | ENSP00000478425.1:p.Lys51Arg |