Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18607578C>T , CM000684.2:g.18607578C>T | GRCh38 |
| NC_000022.10:g.20457445C>T , CM000684.1:g.20457445C>T | GRCh37 |
| NC_000022.9:g.18837445C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015672.2:c.3857G>A MANE Select | NP_056487.1:p.Arg1286Lys |
| ENST00000619918.1:c.3857G>A MANE Select | ENSP00000483386.1:p.Arg1286Lys |
| NM_015672.1:c.3857G>A | NP_056487.1:p.Arg1286Lys |