Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8085938C>T , CM000679.2:g.8085938C>T | GRCh38 |
| NC_000017.10:g.7989256C>T , CM000679.1:g.7989256C>T | GRCh37 |
| NC_000017.9:g.7929981C>T | NCBI36 |
| NG_007099.1:g.6766G>A | |
| NG_007099.2:g.6779G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.352+78G>A MANE Select | ENSP00000497784.1:n.352+78G>A | |
| ENST00000319144.4:c.352+78G>A | ENSP00000315167.4:n.352+78G>A | |
| NM_001139.2:c.352+78G>A | NP_001130.1:n.352+78G>A | |
| NM_001139.3:c.352+78G>A MANE Select | NP_001130.1:n.352+78G>A |