Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128344433G= , CM000667.2:g.128344433G= | GRCh38 |
| NC_000005.9:g.127680125G= , CM000667.1:g.127680125G= | GRCh37 |
| NC_000005.8:g.127708024G= | NCBI36 |
| NG_008750.1:g.198611C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.3295C= MANE Select | ENSP00000262464.4:p.Arg1099= | |
| ENST00000262464.8:c.3295C= | ENSP00000262464.4:p.Arg1099= | |
| ENST00000508053.5:c.3295C= | ENSP00000424571.1:p.Arg1099= | |
| ENST00000508989.5:c.3196C= | ENSP00000425596.1:p.Arg1066= | |
| ENST00000619499.4:c.3292C= | ENSP00000482132.1:p.Arg1098= | |
| NM_001999.3:c.3295C= | NP_001990.2:p.Arg1099= | |
| XM_017009228.2:c.3142C= | XP_016864717.1:p.Arg1048= | |
| NM_001999.4:c.3295C= MANE Select | NP_001990.2:p.Arg1099= |