Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46118343T= , CM000682.2:g.46118343T= | GRCh38 |
| NC_000020.10:g.44746982T= , CM000682.1:g.44746982T= | GRCh37 |
| NC_000020.9:g.44180389T= | NCBI36 |
| NG_007279.1:g.5077T= , LRG_40:g.5077T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001250.6:c.-1T= MANE Select | NP_001241.1:n.-1T= |
| ENST00000372285.8:c.-1T= MANE Select | ENSP00000361359.3:n.-1T= |
| NM_001250.5:c.-1T= | NP_001241.1:n.-1T= |
| NM_001302753.1:c.-1T= | NP_001289682.1:n.-1T= |
| NM_001302753.2:c.-1T= | NP_001289682.1:n.-1T= |
| NM_001322421.1:c.-1T= | NP_001309350.1:n.-1T= |
| NM_001322421.2:c.-1T= | NP_001309350.1:n.-1T= |
| NM_001322422.1:c.-1T= | NP_001309351.1:n.-1T= |
| NM_001322422.2:c.-1T= | NP_001309351.1:n.-1T= |
| NM_001362758.1:c.-1T= | NP_001349687.1:n.-1T= |
| NM_001362758.2:c.-1T= | NP_001349687.1:n.-1T= |
| NM_152854.3:c.-1T= | NP_690593.1:n.-1T= |
| NM_152854.4:c.-1T= | NP_690593.1:n.-1T= |
| NR_126502.1:n.90T= | |
| NR_126502.2:n.30T= | |
| NR_136327.1:n.90T= | |
| NR_136327.2:n.30T= | |
| ENST00000372276.7:c.-1T= | ENSP00000361350.3:n.-1T= |
| ENST00000372285.7:c.-1T= | ENSP00000361359.3:n.-1T= |
| ENST00000620709.4:c.-1T= | ENSP00000484074.1:n.-1T= |
| ENST00000695669.1:n.73T= | |
| ENST00000695670.1:n.59T= | |
| ENST00000695671.1:c.-1T= | ENSP00000512093.1:n.-1T= |
| ENST00000695672.1:n.4T= | |
| XM_005260617.2:c.-1T= | XP_005260674.1:n.-1T= |
| XM_005260619.2:c.-1T= | XP_005260676.1:n.-1T= |
| XM_005260619.3:c.-1T= | XP_005260676.1:n.-1T= |
| XM_011529109.1:c.-1T= | XP_011527411.1:n.-1T= |
| XM_011529109.2:c.-1T= | XP_011527411.1:n.-1T= |
| XM_017028135.1:c.-1T= | XP_016883624.1:n.-1T= |
| XM_017028136.1:c.-1T= | XP_016883625.1:n.-1T= |
| XR_936660.1:n.94T= |