Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19948197G= , CM000670.2:g.19948197G= | GRCh38 |
| NC_000008.10:g.19805708G= , CM000670.1:g.19805708G= | GRCh37 |
| NC_000008.9:g.19849988G= | NCBI36 |
| NG_008855.1:g.14127G= | |
| NG_008855.2:g.51481G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.106G= MANE Select | NP_000228.1:p.Asp36= |
| ENST00000650287.1:c.106G= MANE Select | ENSP00000497642.1:p.Asp36= |
| NM_000237.2:c.106G= | NP_000228.1:p.Asp36= |
| ENST00000311322.8:c.106G= | ENSP00000309757.6:p.Asp36= |
| ENST00000519773.1:c.*143G= | ENSP00000431028.1:n.*143G= |
| ENST00000520959.5:c.-123G= | ENSP00000428496.1:n.-123G= |
| ENST00000521994.1:n.291G= | |
| ENST00000522701.5:c.106G= | ENSP00000428557.1:p.Asp36= |
| ENST00000523696.1:n.175G= | |
| ENST00000524029.5:c.106G= | ENSP00000428237.1:p.Asp36= |