Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320876C>A , CM000666.2:g.119320876C>A | GRCh38 |
| NC_000004.11:g.120242031C>A , CM000666.1:g.120242031C>A | GRCh37 |
| NC_000004.10:g.120461479C>A | NCBI36 |
| NG_011444.1:g.6286G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.68-34G>T MANE Select | ENSP00000274024.3:n.68-34G>T | |
| ENST00000274024.3:c.68-34G>T | ENSP00000274024.3:n.68-34G>T | |
| NM_000134.3:c.68-34G>T | NP_000125.2:n.68-34G>T | |
| NM_000134.4:c.68-34G>T MANE Select | NP_000125.2:n.68-34G>T |