Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126836779T= , CM000667.2:g.126836779T= | GRCh38 |
| NC_000005.9:g.126172471T= , CM000667.1:g.126172471T= | GRCh37 |
| NC_000005.8:g.126200370T= | NCBI36 |
| NG_008360.2:g.64639T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005573.4:c.*515T= MANE Select | NP_005564.1:n.*515T= |
| ENST00000261366.10:c.*515T= MANE Select | ENSP00000261366.5:n.*515T= |
| NM_001198557.1:c.*515T= | NP_001185486.1:n.*515T= |
| NM_001198557.2:c.*515T= | NP_001185486.1:n.*515T= |
| NM_005573.3:c.*515T= | NP_005564.1:n.*515T= |
| NR_134488.1:n.3240T= | |
| ENST00000261366.9:c.*515T= | ENSP00000261366.5:n.*515T= |
| ENST00000460265.5:c.*1364T= | ENSP00000486528.1:n.*1364T= |
| XR_948250.1:n.2718T= |