Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183125412T= , CM000663.2:g.183125412T= | GRCh38 |
| NC_000001.10:g.183094547T= , CM000663.1:g.183094547T= | GRCh37 |
| NC_000001.9:g.181361170T= | NCBI36 |
| NG_011463.1:g.106953T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002293.4:c.2663T= MANE Select | NP_002284.3:p.Leu888= |
| ENST00000258341.5:c.2663T= MANE Select | ENSP00000258341.3:p.Leu888= |
| NM_002293.3:c.2663T= | NP_002284.3:p.Leu888= |
| ENST00000258341.4:c.2663T= | ENSP00000258341.3:p.Leu888= |
| ENST00000466964.1:n.225T= |