Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739357G= , CM000674.2:g.120739357G= | GRCh38 |
| NC_000012.11:g.121177160G= , CM000674.1:g.121177160G= | GRCh37 |
| NC_000012.10:g.119661543G= | NCBI36 |
| NG_007991.1:g.18590G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.1148G= MANE Select | ENSP00000242592.4:p.Arg383= | |
| ENST00000242592.8:c.1148G= | ENSP00000242592.4:p.Arg383= | |
| ENST00000411593.2:c.1136G= | ENSP00000401045.2:p.Arg379= | |
| NM_000017.3:c.1148G= | NP_000008.1:p.Arg383= | |
| NM_001302554.1:c.1136G= | NP_001289483.1:p.Arg379= | |
| NM_000017.4:c.1148G= MANE Select | NP_000008.1:p.Arg383= | |
| NM_001302554.2:c.1136G= | NP_001289483.1:p.Arg379= |