Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189045850T= , CM000664.2:g.189045850T= | GRCh38 |
| NC_000002.11:g.189910576T= , CM000664.1:g.189910576T= | GRCh37 |
| NC_000002.10:g.189618821T= | NCBI36 |
| NG_011799.1:g.139030A= | |
| NG_011799.2:g.139030A= | |
| NG_011799.3:g.184452A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3259A= MANE Select | ENSP00000364000.3:p.Thr1087= | |
| ENST00000374866.7:c.3259A= | ENSP00000364000.3:p.Thr1087= | |
| ENST00000618828.1:c.2098A= | ENSP00000482184.1:p.Thr700= | |
| NM_000393.3:c.3259A= | NP_000384.2:p.Thr1087= | |
| XM_011510573.1:c.3121A= | XP_011508875.1:p.Thr1041= | |
| NM_000393.4:c.3259A= | NP_000384.2:p.Thr1087= | |
| XM_011510573.3:c.3121A= | XP_011508875.1:p.Thr1041= | |
| NM_000393.5:c.3259A= MANE Select | NP_000384.2:p.Thr1087= |