Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862920T= , CM000666.2:g.4862920T= | GRCh38 |
| NC_000004.11:g.4864647T= , CM000666.1:g.4864647T= | GRCh37 |
| NC_000004.10:g.4915548T= | NCBI36 |
| NG_008121.1:g.8256T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.689T= MANE Select | ENSP00000372170.4:p.Leu230= | |
| ENST00000382723.4:c.689T= | ENSP00000372170.4:p.Leu230= | |
| ENST00000468421.1:n.401T= | ||
| NM_002448.3:c.689T= MANE Select | NP_002439.2:p.Leu230= |