Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812715A= , CM000672.2:g.110812715A= | GRCh38 |
| NC_000010.10:g.112572473A= , CM000672.1:g.112572473A= | GRCh37 |
| NC_000010.9:g.112562463A= | NCBI36 |
| NG_021177.1:g.173319A= , LRG_382:g.173319A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.2318A= MANE Select | ENSP00000358532.3:p.Lys773= | |
| ENST00000369519.3:c.2318A= | ENSP00000358532.3:p.Lys773= | |
| NM_001134363.2:c.2318A= | NP_001127835.2:p.Lys773= | |
| XM_011539697.1:c.1934A= | XP_011537999.1:p.Lys645= | |
| XM_017016103.2:c.2153A= | XP_016871592.1:p.Lys718= | |
| XM_017016104.2:c.1934A= | XP_016871593.1:p.Lys645= | |
| NM_001134363.3:c.2318A= MANE Select | NP_001127835.2:p.Lys773= |