Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451415T= , CM000665.2:g.52451415T= | GRCh38 |
| NC_000003.11:g.52485431T= , CM000665.1:g.52485431T= | GRCh37 |
| NC_000003.10:g.52460471T= | NCBI36 |
| NG_008963.1:g.7627A= , LRG_378:g.7627A= | |
| NG_033112.1:g.908T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003280.3:c.430A= MANE Select | NP_003271.1:p.Asn144= |
| ENST00000232975.8:c.430A= MANE Select | ENSP00000232975.3:p.Asn144= |
| NM_003280.2:c.430A= , LRG_378t1:c.430A= | NP_003271.1:p.Asn144= |
| ENST00000232975.7:c.430A= | ENSP00000232975.3:p.Asn144= |
| ENST00000496590.1:c.298A= |