Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60645031A= , CM000676.2:g.60645031A= | GRCh38 |
| NC_000014.8:g.61111749A= , CM000676.1:g.61111749A= | GRCh37 |
| NC_000014.7:g.60181502A= | NCBI36 |
| NG_008231.1:g.9407T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645694.3:c.*1252T= MANE Select | ENSP00000494686.1:n.*1252T= | |
| ENST00000247182.6:c.*1252T= | ENSP00000247182.5:n.*1252T= | |
| ENST00000554986.2:c.*1252T= | ENSP00000452700.2:n.*1252T= | |
| ENST00000555955.3:n.2744T= | ||
| NM_005982.3:c.*1252T= | NP_005973.1:n.*1252T= | |
| XM_017021602.2:c.*1526T= | XP_016877091.1:n.*1526T= | |
| NM_005982.4:c.*1252T= MANE Select | NP_005973.1:n.*1252T= |