Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429854C= , CM000663.2:g.68429854C= | GRCh38 |
| NC_000001.10:g.68895537C= , CM000663.1:g.68895537C= | GRCh37 |
| NC_000001.9:g.68668125C= | NCBI36 |
| NG_008472.1:g.25106G= | |
| NG_008472.2:g.25106G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1524G= MANE Select | ENSP00000262340.5:p.Lys508= | |
| ENST00000262340.5:c.1524G= | ENSP00000262340.5:p.Lys508= | |
| NM_000329.2:c.1524G= | NP_000320.1:p.Lys508= | |
| XM_017002027.1:c.1248G= | XP_016857516.1:p.Lys416= | |
| NM_000329.3:c.1524G= MANE Select | NP_000320.1:p.Lys508= |