Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154860461T= , CM000685.2:g.154860461T= | GRCh38 |
| NC_000023.10:g.154088736T= , CM000685.1:g.154088736T= | GRCh37 |
| NC_000023.9:g.153741930T= | NCBI36 |
| NG_011403.1:g.167263A= | |
| NG_011403.2:g.167263A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6871A= MANE Select | ENSP00000353393.4:p.Thr2291= | |
| ENST00000644698.1:c.604A= | ENSP00000495706.1:p.Thr202= | |
| ENST00000330287.10:c.466A= | ENSP00000327895.6:p.Thr156= | |
| ENST00000360256.8:c.6871A= | ENSP00000353393.4:p.Thr2291= | |
| NM_000132.3:c.6871A= | NP_000123.1:p.Thr2291= | |
| NM_019863.2:c.466A= | NP_063916.1:p.Thr156= | |
| XM_011531126.1:c.6766A= | XP_011529428.1:p.Thr2256= | |
| NM_000132.4:c.6871A= MANE Select | NP_000123.1:p.Thr2291= | |
| NM_019863.3:c.466A= | NP_063916.1:p.Thr156= |