Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71030569A= , CM000666.2:g.71030569A= | GRCh38 |
| NC_000004.11:g.71896286A= , CM000666.1:g.71896286A= | GRCh37 |
| NC_000004.10:g.72115150A= | NCBI36 |
| NG_023303.1:g.42022A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286648.10:c.*1191A= MANE Select | ENSP00000286648.5:n.*1191A= | |
| ENST00000286648.9:c.*1191A= | ENSP00000286648.5:n.*1191A= | |
| ENST00000503359.5:c.*1918A= | ENSP00000426389.1:n.*1918A= | |
| ENST00000504730.5:c.*1258A= | ENSP00000425578.1:n.*1258A= | |
| ENST00000504952.1:c.*1117A= | ENSP00000421508.1:n.*1117A= | |
| NM_000788.2:c.*1191A= | NP_000779.1:n.*1191A= | |
| NM_000788.3:c.*1191A= MANE Select | NP_000779.1:n.*1191A= |