Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739356C= , CM000674.2:g.120739356C= | GRCh38 |
| NC_000012.11:g.121177159C= , CM000674.1:g.121177159C= | GRCh37 |
| NC_000012.10:g.119661542C= | NCBI36 |
| NG_007991.1:g.18589C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000017.4:c.1147C= MANE Select | NP_000008.1:p.Arg383= |
| ENST00000242592.9:c.1147C= MANE Select | ENSP00000242592.4:p.Arg383= |
| NM_000017.3:c.1147C= | NP_000008.1:p.Arg383= |
| NM_001302554.1:c.1135C= | NP_001289483.1:p.Arg379= |
| NM_001302554.2:c.1135C= | NP_001289483.1:p.Arg379= |
| ENST00000242592.8:c.1147C= | ENSP00000242592.4:p.Arg383= |
| ENST00000411593.2:c.1135C= | ENSP00000401045.2:p.Arg379= |