Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1433286G>A , CM000667.2:g.1433286G>A | GRCh38 |
| NC_000005.9:g.1433401G>A , CM000667.1:g.1433401G>A | GRCh37 |
| NC_000005.8:g.1486401G>A | NCBI36 |
| NG_015885.1:g.17143C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001044.5:c.419-588C>T MANE Select | NP_001035.1:n.419-588C>T |
| ENST00000270349.12:c.419-588C>T MANE Select | ENSP00000270349.9:n.419-588C>T |
| NM_001044.4:c.419-588C>T | NP_001035.1:n.419-588C>T |
| ENST00000270349.11:c.419-588C>T | ENSP00000270349.9:n.419-588C>T |