Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55124979C= , CM000666.2:g.55124979C= | GRCh38 |
| NC_000004.11:g.55991146C= , CM000666.1:g.55991146C= | GRCh37 |
| NC_000004.10:g.55685903C= | NCBI36 |
| NG_012004.1:g.5617G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.67+248G= MANE Select | ENSP00000263923.4:n.67+248G= | |
| ENST00000263923.4:c.67+248G= | ENSP00000263923.4:n.67+248G= | |
| ENST00000512566.1:n.67+248G= | ||
| NM_002253.2:c.67+248G= | NP_002244.1:n.67+248G= | |
| NM_002253.3:c.67+248G= | NP_002244.1:n.67+248G= | |
| NM_002253.4:c.67+248G= MANE Select | NP_002244.1:n.67+248G= |