Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169510210T>C , CM000664.2:g.169510210T>C | GRCh38 |
| NC_000002.11:g.170366720T>C , CM000664.1:g.170366720T>C | GRCh37 |
| NC_000002.10:g.170074966T>C | NCBI36 |
| NG_042051.1:g.5509T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006063.3:c.432T>C MANE Select | NP_006054.2:p.Leu144= |
| ENST00000284669.2:c.432T>C MANE Select | ENSP00000284669.1:p.Leu144= |
| NM_006063.2:c.432T>C | NP_006054.2:p.Leu144= |
| ENST00000284669.1:c.432T>C | ENSP00000284669.1:p.Leu144= |
| ENST00000513963.1:c.925-4364T>C | ENSP00000424363.1:n.925-4364T>C |