Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131861615T= , CM000668.2:g.131861615T= | GRCh38 |
| NC_000006.11:g.132182755T= , CM000668.1:g.132182755T= | GRCh37 |
| NC_000006.10:g.132224448T= | NCBI36 |
| NG_008206.1:g.58600T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.936T= MANE Select | ENSP00000498074.1:p.Tyr312= | |
| ENST00000650147.1:c.553T= | ||
| ENST00000650437.1:c.427T= | ||
| ENST00000360971.6:c.936T= | ENSP00000354238.2:p.Tyr312= | |
| ENST00000459624.1:n.6T= | ||
| ENST00000513998.5:c.936T= | ENSP00000422424.1:p.Tyr312= | |
| NM_006208.2:c.936T= | NP_006199.2:p.Tyr312= | |
| NM_006208.3:c.936T= MANE Select | NP_006199.2:p.Tyr312= |