Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8073287G>A , CM000679.2:g.8073287G>A | GRCh38 |
| NC_000017.10:g.7976605G>A , CM000679.1:g.7976605G>A | GRCh37 |
| NC_000017.9:g.7917330G>A | NCBI36 |
| NG_007099.1:g.19417C>T | |
| NG_007099.2:g.19430C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.1787C>T MANE Select | NP_001130.1:p.Pro596Leu |
| ENST00000647874.1:c.1787C>T MANE Select | ENSP00000497784.1:p.Pro596Leu |
| NM_001139.2:c.1787C>T | NP_001130.1:p.Pro596Leu |
| ENST00000319144.4:c.1787C>T | ENSP00000315167.4:p.Pro596Leu |
| ENST00000577351.5:n.511C>T | |
| ENST00000649809.1:c.851C>T | ENSP00000496845.1:p.Pro284Leu |
| ENST00000650441.1:n.210C>T |