Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48465238C= , CM000675.2:g.48465238C= | GRCh38 |
| NC_000013.10:g.49039374C= , CM000675.1:g.49039374C= | GRCh37 |
| NC_000013.9:g.47937375C= | NCBI36 |
| NG_009009.1:g.166492C= , LRG_517:g.166492C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.2359C= MANE Select | NP_000312.2:p.Arg787= |
| ENST00000267163.6:c.2359C= MANE Select | ENSP00000267163.4:p.Arg787= |
| NM_000321.2:c.2359C= , LRG_517t1:c.2359C= | NP_000312.2:p.Arg787= |
| ENST00000267163.4:c.2359C= | ENSP00000267163.4:p.Arg787= |
| ENST00000643064.1:c.194+83795C= | |
| ENST00000650461.1:c.2359C= | ENSP00000497193.1:p.Arg787= |
| XM_011535171.1:c.2098C= | XP_011533473.1:p.Arg700= |
| XM_011535171.2:c.2098C= | XP_011533473.1:p.Arg700= |