Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028572T= , CM000667.2:g.135028572T= | GRCh38 |
| NC_000005.9:g.134364262T= , CM000667.1:g.134364262T= | GRCh37 |
| NC_000005.8:g.134392161T= | NCBI36 |
| NG_012114.1:g.10703A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*207A= MANE Select | ENSP00000265340.6:n.*207A= | |
| ENST00000265340.11:c.*207A= | ENSP00000265340.6:n.*207A= | |
| ENST00000506438.5:c.*207A= | ENSP00000427542.1:n.*207A= | |
| NM_002653.4:c.*207A= | NP_002644.4:n.*207A= | |
| NM_002653.5:c.*207A= MANE Select | NP_002644.4:n.*207A= |