Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044289C>T , CM000672.2:g.114044289C>T | GRCh38 |
| NC_000010.10:g.115804048C>T , CM000672.1:g.115804048C>T | GRCh37 |
| NC_000010.9:g.115794038C>T | NCBI36 |
| NG_012187.1:g.5243C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369295.4:c.157C>T MANE Select | ENSP00000358301.2:p.Leu53= | |
| ENST00000369295.3:c.157C>T | ENSP00000358301.2:p.Leu53= | |
| NM_000684.2:c.157C>T | NP_000675.1:p.Leu53= | |
| NM_000684.3:c.157C>T MANE Select | NP_000675.1:p.Leu53= |