Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78620789G>A , CM000677.2:g.78620789G>A | GRCh38 |
| NC_000015.9:g.78913131G>A , CM000677.1:g.78913131G>A | GRCh37 |
| NC_000015.8:g.76700186G>A | NCBI36 |
| NG_016143.1:g.5507C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000743.5:c.6C>T MANE Select | NP_000734.2:p.Gly2= |
| ENST00000326828.6:c.6C>T MANE Select | ENSP00000315602.5:p.Gly2= |
| NM_000743.4:c.6C>T | NP_000734.2:p.Gly2= |
| NM_001166694.1:c.6C>T | NP_001160166.1:p.Gly2= |
| NM_001166694.2:c.6C>T | NP_001160166.1:p.Gly2= |
| NR_046313.1:n.507C>T | |
| NR_046313.2:n.208C>T | |
| ENST00000326828.5:c.6C>T | ENSP00000315602.5:p.Gly2= |
| ENST00000348639.7:c.6C>T | ENSP00000267951.4:p.Gly2= |
| ENST00000559658.5:c.6C>T | ENSP00000452896.1:p.Gly2= |
| ENST00000561128.1:n.1C>T |