Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1394407C= , CM000667.2:g.1394407C= | GRCh38 |
| NC_000005.9:g.1394522C= , CM000667.1:g.1394522C= | GRCh37 |
| NC_000005.8:g.1447522C= | NCBI36 |
| NG_015885.1:g.56022G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001044.5:c.*328G= MANE Select | NP_001035.1:n.*328G= |
| ENST00000270349.12:c.*328G= MANE Select | ENSP00000270349.9:n.*328G= |
| NM_001044.4:c.*328G= | NP_001035.1:n.*328G= |
| ENST00000270349.11:c.*328G= | ENSP00000270349.9:n.*328G= |
| ENST00000512002.2:n.572G= |