Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169510317T>A , CM000664.2:g.169510317T>A | GRCh38 |
| NC_000002.11:g.170366827T>A , CM000664.1:g.170366827T>A | GRCh37 |
| NC_000002.10:g.170075073T>A | NCBI36 |
| NG_042051.1:g.5616T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006063.3:c.539T>A MANE Select | NP_006054.2:p.Ile180Asn |
| ENST00000284669.2:c.539T>A MANE Select | ENSP00000284669.1:p.Ile180Asn |
| NM_006063.2:c.539T>A | NP_006054.2:p.Ile180Asn |
| ENST00000284669.1:c.539T>A | ENSP00000284669.1:p.Ile180Asn |
| ENST00000513963.1:c.925-4257T>A | ENSP00000424363.1:n.925-4257T>A |