Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519120T>C , CM000674.2:g.52519120T>C | GRCh38 |
| NC_000012.11:g.52912904T>C , CM000674.1:g.52912904T>C | GRCh37 |
| NC_000012.10:g.51199171T>C | NCBI36 |
| NG_008297.1:g.6340A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.596A>G MANE Select | NP_000415.2:p.Lys199Arg |
| ENST00000252242.9:c.596A>G MANE Select | ENSP00000252242.4:p.Lys199Arg |
| NM_000424.3:c.596A>G | NP_000415.2:p.Lys199Arg |
| ENST00000252242.8:c.596A>G | ENSP00000252242.4:p.Lys199Arg |
| ENST00000549420.1:c.266A>G | ENSP00000447209.1:p.Lys89Arg |
| ENST00000551013.1:n.124A>G | |
| ENST00000552629.5:n.694A>G |