Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444511G= , CM000673.2:g.2444511G= | GRCh38 |
| NC_000011.9:g.2465741G= , CM000673.1:g.2465741G= | GRCh37 |
| NC_000011.8:g.2422317G= | NCBI36 |
| NG_008935.1:g.4521G= , LRG_287:g.4521G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696290.1:c.-1766C= MANE Select | ENSP00000512529.1:n.-1766C= | |
| XR_930984.1:n.60C= | ||
| NM_014555.4:c.-1766C= MANE Select | NP_055370.1:n.-1766C= |