Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137200392G>A , CM000671.2:g.137200392G>A | GRCh38 |
| NC_000009.11:g.140094844G>A , CM000671.1:g.140094844G>A | GRCh37 |
| NC_000009.10:g.139214665G>A | NCBI36 |
| NG_027801.1:g.5320C>T | |
| NG_027801.2:g.8802C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001128228.3:c.320C>T MANE Select | NP_001121700.2:p.Pro107Leu |
| ENST00000409012.6:c.320C>T MANE Select | ENSP00000387100.4:p.Pro107Leu |
| NM_001128228.2:c.320C>T | NP_001121700.2:p.Pro107Leu |
| ENST00000409012.4:c.320C>T | ENSP00000387100.4:p.Pro107Leu |
| ENST00000541945.1:n.90+3712C>T |