Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44826765G>A , CM000663.2:g.44826765G>A | GRCh38 |
| NC_000001.10:g.45292437G>A , CM000663.1:g.45292437G>A | GRCh37 |
| NC_000001.9:g.45065024G>A | NCBI36 |
| NG_013369.1:g.21180C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372192.4:c.2699C>T MANE Select | ENSP00000361266.3:p.Pro900Leu | |
| ENST00000372192.3:c.2699C>T | ENSP00000361266.3:p.Pro900Leu | |
| ENST00000447098.6:c.2699C>T | ENSP00000389703.2:p.Pro900Leu | |
| NM_001166292.1:c.2699C>T | NP_001159764.1:p.Pro900Leu | |
| NM_003738.4:c.2699C>T | NP_003729.3:p.Pro900Leu | |
| NM_003738.5:c.2699C>T MANE Select | NP_003729.3:p.Pro900Leu | |
| NM_001166292.2:c.2699C>T | NP_001159764.1:p.Pro900Leu |