Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812679G= , CM000672.2:g.110812679G= | GRCh38 |
| NC_000010.10:g.112572437G= , CM000672.1:g.112572437G= | GRCh37 |
| NC_000010.9:g.112562427G= | NCBI36 |
| NG_021177.1:g.173283G= , LRG_382:g.173283G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.2282G= MANE Select | ENSP00000358532.3:p.Arg761= | |
| ENST00000369519.3:c.2282G= | ENSP00000358532.3:p.Arg761= | |
| NM_001134363.2:c.2282G= | NP_001127835.2:p.Arg761= | |
| XM_011539697.1:c.1898G= | XP_011537999.1:p.Arg633= | |
| XM_017016103.2:c.2117G= | XP_016871592.1:p.Arg706= | |
| XM_017016104.2:c.1898G= | XP_016871593.1:p.Arg633= | |
| NM_001134363.3:c.2282G= MANE Select | NP_001127835.2:p.Arg761= |