Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136056754C= , CM000667.2:g.136056754C= | GRCh38 |
| NC_000005.9:g.135392443C= , CM000667.1:g.135392443C= | GRCh37 |
| NC_000005.8:g.135420342C= | NCBI36 |
| NG_012646.1:g.32860C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1637C= MANE Select | ENSP00000416330.2:p.Ala546= | |
| ENST00000442011.6:c.1637C= | ENSP00000416330.2:p.Ala546= | |
| ENST00000506699.5:n.2154C= | ||
| ENST00000507018.5:c.1615C= | ||
| ENST00000509485.5:c.634C= | ||
| ENST00000514242.5:n.408C= | ||
| ENST00000514554.5:c.789C= | ||
| NM_000358.2:c.1637C= | NP_000349.1:p.Ala546= | |
| NM_000358.3:c.1637C= MANE Select | NP_000349.1:p.Ala546= |