Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40931660G= , CM000684.2:g.40931660G= | GRCh38 |
| NC_000022.10:g.41327664G= , CM000684.1:g.41327664G= | GRCh37 |
| NC_000022.9:g.39657610G= | NCBI36 |
| NG_028221.1:g.79580G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022098.4:c.*5225G= MANE Select | NP_071381.1:n.*5225G= |
| ENST00000357137.9:c.*5225G= MANE Select | ENSP00000349658.4:n.*5225G= |
| NM_022098.3:c.*5225G= | NP_071381.1:n.*5225G= |
| ENST00000357137.8:c.*5225G= | ENSP00000349658.4:n.*5225G= |