Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44251253G>A , CM000679.2:g.44251253G>A | GRCh38 |
| NC_000017.10:g.42328621G>A , CM000679.1:g.42328621G>A | GRCh37 |
| NC_000017.9:g.39684147G>A | NCBI36 |
| NG_007498.1:g.21882C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000342.4:c.2561C>T MANE Select | NP_000333.1:p.Pro854Leu |
| ENST00000262418.12:c.2561C>T MANE Select | ENSP00000262418.6:p.Pro854Leu |
| NM_000342.3:c.2561C>T | NP_000333.1:p.Pro854Leu |
| ENST00000262418.10:c.2561C>T | ENSP00000262418.6:p.Pro854Leu |
| ENST00000399246.3:c.1463C>T | ENSP00000382190.3:p.Pro488Leu |
| XM_005257593.3:c.2366C>T | XP_005257650.1:p.Pro789Leu |
| XM_005257593.5:c.2366C>T | XP_005257650.1:p.Pro789Leu |
| XM_011525129.1:c.2471C>T | XP_011523431.1:p.Pro824Leu |
| XM_011525129.2:c.2471C>T | XP_011523431.1:p.Pro824Leu |