Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045753A= , CM000675.2:g.48045753A= | GRCh38 |
| NC_000013.10:g.48619889A= , CM000675.1:g.48619889A= | GRCh37 |
| NC_000013.9:g.47517890A= | NCBI36 |
| NG_047021.1:g.13187A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.449A= MANE Select | ENSP00000258662.1:p.Lys150= | |
| ENST00000258662.2:c.449A= | ENSP00000258662.1:p.Lys150= | |
| NM_018283.2:c.449A= | NP_060753.1:p.Lys150= | |
| NM_018283.3:c.449A= | NP_060753.1:p.Lys150= | |
| NR_136687.1:n.629A= | ||
| NR_136688.1:n.629A= | ||
| NM_018283.4:c.449A= MANE Select | NP_060753.1:p.Lys150= | |
| NR_136687.2:n.470A= | ||
| NR_136688.2:n.470A= |