Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429884C= , CM000663.2:g.68429884C= | GRCh38 |
| NC_000001.10:g.68895567C= , CM000663.1:g.68895567C= | GRCh37 |
| NC_000001.9:g.68668155C= | NCBI36 |
| NG_008472.1:g.25076G= | |
| NG_008472.2:g.25076G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1494G= MANE Select | ENSP00000262340.5:p.Lys498= | |
| ENST00000262340.5:c.1494G= | ENSP00000262340.5:p.Lys498= | |
| NM_000329.2:c.1494G= | NP_000320.1:p.Lys498= | |
| XM_017002027.1:c.1218G= | XP_016857516.1:p.Lys406= | |
| NM_000329.3:c.1494G= MANE Select | NP_000320.1:p.Lys498= |