Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82043205C>T , CM000677.2:g.82043205C>T | GRCh38 |
| NC_000015.9:g.82335546C>T , CM000677.1:g.82335546C>T | GRCh37 |
| NC_000015.8:g.80122601C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032246.6:c.1665G>A MANE Select | NP_115622.2:p.Pro555= |
| ENST00000329713.5:c.1665G>A MANE Select | ENSP00000329918.4:p.Pro555= |
| NM_032246.4:c.1665G>A | NP_115622.2:p.Pro555= |
| NM_032246.5:c.1665G>A | NP_115622.2:p.Pro555= |
| ENST00000329713.4:c.1665G>A | ENSP00000329918.4:p.Pro555= |
| ENST00000558133.1:c.*2024G>A | ENSP00000456938.1:n.*2024G>A |