Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80276381G= , CM000672.2:g.80276381G= | GRCh38 |
| NC_000010.10:g.82036137G= , CM000672.1:g.82036137G= | GRCh37 |
| NC_000010.9:g.82026117G= | NCBI36 |
| NG_008083.1:g.18298C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000429.3:c.763C= MANE Select | NP_000420.1:p.Pro255= |
| ENST00000372213.8:c.763C= MANE Select | ENSP00000361287.3:p.Pro255= |
| NM_000429.2:c.763C= | NP_000420.1:p.Pro255= |
| ENST00000372213.7:c.763C= | ENSP00000361287.3:p.Pro255= |
| XM_005269842.3:c.763C= | XP_005269899.1:p.Pro255= |
| XM_005269843.3:c.640C= | XP_005269900.1:p.Pro214= |