Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52452167C= , CM000665.2:g.52452167C= | GRCh38 |
| NC_000003.11:g.52486183C= , CM000665.1:g.52486183C= | GRCh37 |
| NC_000003.10:g.52461223C= | NCBI36 |
| NG_008963.1:g.6875G= , LRG_378:g.6875G= | |
| NG_033112.1:g.1660C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.141G= MANE Select | ENSP00000232975.3:p.Met47= | |
| ENST00000232975.7:c.141G= | ENSP00000232975.3:p.Met47= | |
| ENST00000496590.1:c.9G= | ENSP00000420596.1:p.Met3= | |
| NM_003280.2:c.141G= , LRG_378t1:c.141G= | NP_003271.1:p.Met47= | |
| NM_003280.3:c.141G= MANE Select | NP_003271.1:p.Met47= |