Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58718236G>A , CM000678.2:g.58718236G>A | GRCh38 |
| NC_000016.9:g.58752140G>A , CM000678.1:g.58752140G>A | GRCh37 |
| NC_000016.8:g.57309641G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245206.10:c.662C>T MANE Select | ENSP00000245206.5:p.Pro221Leu | |
| ENST00000245206.9:c.662C>T | ENSP00000245206.5:p.Pro221Leu | |
| ENST00000434819.2:c.533C>T | ENSP00000394100.2:p.Pro178Leu | |
| ENST00000496461.5:n.962C>T | ||
| ENST00000564400.5:n.776C>T | ||
| NM_001286220.1:c.533C>T | NP_001273149.1:p.Pro178Leu | |
| NM_002080.3:c.662C>T | NP_002071.2:p.Pro221Leu | |
| NM_002080.4:c.662C>T MANE Select | NP_002071.2:p.Pro221Leu | |
| NM_001286220.2:c.533C>T | NP_001273149.1:p.Pro178Leu |