Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122185A= , CM000668.2:g.18122185A= | GRCh38 |
| NC_000006.11:g.18122416A= , CM000668.1:g.18122416A= | GRCh37 |
| NC_000006.10:g.18230395A= | NCBI36 |
| NG_016750.1:g.5436T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340650.6:c.422T= MANE Select | ENSP00000345464.3:p.Val141= | |
| ENST00000340650.4:c.422T= | ENSP00000345464.3:p.Val141= | |
| NM_198586.2:c.422T= | NP_940988.2:p.Val141= | |
| NM_198586.3:c.422T= MANE Select | NP_940988.2:p.Val141= |