Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1394338C= , CM000667.2:g.1394338C= | GRCh38 |
| NC_000005.9:g.1394453C= , CM000667.1:g.1394453C= | GRCh37 |
| NC_000005.8:g.1447453C= | NCBI36 |
| NG_015885.1:g.56091G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.*397G= MANE Select | ENSP00000270349.9:n.*397G= | |
| ENST00000270349.11:c.*397G= | ENSP00000270349.9:n.*397G= | |
| ENST00000512002.2:n.641G= | ||
| NM_001044.4:c.*397G= | NP_001035.1:n.*397G= | |
| NM_001044.5:c.*397G= MANE Select | NP_001035.1:n.*397G= |