Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021280G= , CM000663.2:g.94021280G= | GRCh38 |
| NC_000001.10:g.94486836G= , CM000663.1:g.94486836G= | GRCh37 |
| NC_000001.9:g.94259424G= | NCBI36 |
| NG_009073.1:g.104870C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4978C= MANE Select | ENSP00000359245.3:p.Pro1660= | |
| ENST00000370225.3:c.4978C= | ENSP00000359245.3:p.Pro1660= | |
| ENST00000460514.1:n.472C= | ||
| ENST00000470771.1:n.88C= | ||
| ENST00000536513.5:c.1354C= | ENSP00000439707.2:p.Pro452= | |
| NM_000350.2:c.4978C= | NP_000341.2:p.Pro1660= | |
| NM_000350.3:c.4978C= MANE Select | NP_000341.2:p.Pro1660= |