Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152884579C>T , CM000663.2:g.152884579C>T | GRCh38 |
| NC_000001.10:g.152857055C>T , CM000663.1:g.152857055C>T | GRCh37 |
| NC_000001.9:g.151123679C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030663.3:c.157C>T MANE Select | NP_109588.2:p.Pro53Ser |
| ENST00000368765.4:c.157C>T MANE Select | ENSP00000357754.3:p.Pro53Ser |
| NM_030663.2:c.157C>T | NP_109588.2:p.Pro53Ser |
| ENST00000368765.3:c.157C>T | ENSP00000357754.3:p.Pro53Ser |