Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21140691A= , CM000671.2:g.21140691A= | GRCh38 |
| NC_000009.11:g.21140690A= , CM000671.1:g.21140690A= | GRCh37 |
| NC_000009.10:g.21130690A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380229.4:c.*292T= MANE Select | ENSP00000369578.2:n.*292T= | |
| ENST00000380229.3:c.*292T= | ENSP00000369578.2:n.*292T= | |
| NM_002177.1:c.*292T= | NP_002168.1:n.*292T= | |
| NM_002177.2:c.*292T= | NP_002168.1:n.*292T= | |
| NM_002177.3:c.*292T= MANE Select | NP_002168.1:n.*292T= |