Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74752128T= , CM000677.2:g.74752128T= | GRCh38 |
| NC_000015.9:g.75044469T= , CM000677.1:g.75044469T= | GRCh37 |
| NC_000015.8:g.72831522T= | NCBI36 |
| NG_008431.1:g.34587T= | |
| NG_008431.2:g.34587T= | |
| NG_061543.1:g.8284T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.1047T= MANE Select | ENSP00000342007.4:p.Thr349= | |
| ENST00000343932.4:c.1047T= | ENSP00000342007.4:p.Thr349= | |
| NM_000761.4:c.1047T= | NP_000752.2:p.Thr349= | |
| NM_000761.5:c.1047T= MANE Select | NP_000752.2:p.Thr349= |