Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67877614T= , CM000678.2:g.67877614T= | GRCh38 |
| NC_000016.9:g.67911517T= , CM000678.1:g.67911517T= | GRCh37 |
| NC_000016.8:g.66469018T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014329.5:c.747T= MANE Select | NP_055144.3:p.Cys249= |
| ENST00000358933.10:c.747T= MANE Select | ENSP00000351811.5:p.Cys249= |
| NM_014329.4:c.747T= | NP_055144.3:p.Cys249= |
| ENST00000358933.9:c.747T= | ENSP00000351811.5:p.Cys249= |
| ENST00000536072.6:n.752T= | |
| ENST00000572221.5:n.1057T= | |
| ENST00000573992.5:n.126T= | |
| ENST00000574770.5:n.511T= |