Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451403T= , CM000665.2:g.52451403T= | GRCh38 |
| NC_000003.11:g.52485419T= , CM000665.1:g.52485419T= | GRCh37 |
| NC_000003.10:g.52460459T= | NCBI36 |
| NG_008963.1:g.7639A= , LRG_378:g.7639A= | |
| NG_033112.1:g.896T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.442A= MANE Select | ENSP00000232975.3:p.Ile148= | |
| ENST00000232975.7:c.442A= | ENSP00000232975.3:p.Ile148= | |
| NM_003280.2:c.442A= , LRG_378t1:c.442A= | NP_003271.1:p.Ile148= | |
| NM_003280.3:c.442A= MANE Select | NP_003271.1:p.Ile148= |