Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4235043A>T , CM000682.2:g.4235043A>T | GRCh38 |
| NC_000020.10:g.4215690A>T , CM000682.1:g.4215690A>T | GRCh37 |
| NC_000020.9:g.4163690A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379453.6:c.1111+12804T>A MANE Select | ENSP00000368766.4:n.1111+12804T>A | |
| ENST00000379453.5:c.1111+12804T>A | ENSP00000368766.4:n.1111+12804T>A | |
| NM_000678.3:c.1111+12804T>A | NP_000669.1:n.1111+12804T>A | |
| NM_000678.4:c.1111+12804T>A MANE Select | NP_000669.1:n.1111+12804T>A |