Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046384C= , CM000667.2:g.136046384C= | GRCh38 |
| NC_000005.9:g.135382073C= , CM000667.1:g.135382073C= | GRCh37 |
| NC_000005.8:g.135409972C= | NCBI36 |
| NG_012646.1:g.22490C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.348C= MANE Select | ENSP00000416330.2:p.Thr116= | |
| ENST00000442011.6:c.348C= | ENSP00000416330.2:p.Thr116= | |
| ENST00000504185.5:n.505C= | ||
| ENST00000506699.5:n.413C= | ||
| ENST00000507018.5:c.265C= | ||
| ENST00000515433.1:n.640C= | ||
| NM_000358.2:c.348C= | NP_000349.1:p.Thr116= | |
| NM_000358.3:c.348C= MANE Select | NP_000349.1:p.Thr116= |