Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046357C= , CM000667.2:g.136046357C= | GRCh38 |
| NC_000005.9:g.135382046C= , CM000667.1:g.135382046C= | GRCh37 |
| NC_000005.8:g.135409945C= | NCBI36 |
| NG_012646.1:g.22463C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.321C= MANE Select | ENSP00000416330.2:p.Tyr107= | |
| ENST00000442011.6:c.321C= | ENSP00000416330.2:p.Tyr107= | |
| ENST00000504185.5:n.478C= | ||
| ENST00000506699.5:n.386C= | ||
| ENST00000507018.5:c.238C= | ||
| ENST00000515433.1:n.613C= | ||
| NM_000358.2:c.321C= | NP_000349.1:p.Tyr107= | |
| NM_000358.3:c.321C= MANE Select | NP_000349.1:p.Tyr107= |