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