Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68439033T= , CM000663.2:g.68439033T= | GRCh38 |
| NC_000001.10:g.68904716T= , CM000663.1:g.68904716T= | GRCh37 |
| NC_000001.9:g.68677304T= | NCBI36 |
| NG_008472.1:g.15927A= | |
| NG_008472.2:g.15927A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.907A= MANE Select | ENSP00000262340.5:p.Lys303= | |
| ENST00000262340.5:c.907A= | ENSP00000262340.5:p.Lys303= | |
| NM_000329.2:c.907A= | NP_000320.1:p.Lys303= | |
| XM_017002027.1:c.631A= | XP_016857516.1:p.Lys211= | |
| NM_000329.3:c.907A= MANE Select | NP_000320.1:p.Lys303= |