Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.63974702C>T , CM000673.2:g.63974702C>T | GRCh38 |
| NC_000011.9:g.63742174C>T , CM000673.1:g.63742174C>T | GRCh37 |
| NC_000011.8:g.63498750C>T | NCBI36 |
| NG_046750.1:g.5096C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004074.3:c.22C>T MANE Select | NP_004065.1:p.Leu8= |
| ENST00000314133.4:c.22C>T MANE Select | ENSP00000321260.3:p.Leu8= |
| NM_004074.2:c.22C>T | NP_004065.1:p.Leu8= |
| ENST00000314133.3:c.22C>T | ENSP00000321260.3:p.Leu8= |
| ENST00000535431.1:c.22C>T | ENSP00000475957.1:p.Leu8= |