Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215780000C= , CM000663.2:g.215780000C= | GRCh38 |
| NC_000001.10:g.215953342C= , CM000663.1:g.215953342C= | GRCh37 |
| NC_000001.9:g.214019965C= | NCBI36 |
| NG_009497.1:g.648397G= | |
| NG_009497.2:g.648449G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10782G= MANE Select | ENSP00000305941.3:p.Leu3594= | |
| ENST00000674083.1:c.10782G= | ENSP00000501296.1:p.Leu3594= | |
| ENST00000307340.7:c.10782G= | ENSP00000305941.3:p.Leu3594= | |
| NM_206933.2:c.10782G= | NP_996816.2:p.Leu3594= | |
| NM_206933.3:c.10782G= | NP_996816.2:p.Leu3594= | |
| NM_206933.4:c.10782G= MANE Select | NP_996816.3:p.Leu3594= |