Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442501C= , CM000666.2:g.177442501C= | GRCh38 |
| NC_000004.11:g.178363655C= , CM000666.1:g.178363655C= | GRCh37 |
| NC_000004.10:g.178600649C= | NCBI36 |
| NG_011845.2:g.5003G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.6:c.-126G= (AGA) | ENSP00000264595.2:n.-126G= | |
| NM_000027.3:c.-126G= (AGA) | NP_000018.2:n.-126G= | |
| NM_001171988.1:c.-126G= (AGA) | NP_001165459.1:n.-126G= | |
| NR_033655.1:n.3G= (AGA) | ||
| XM_006714123.2:c.-126G= (AGA) | XP_006714186.1:n.-126G= | |
| XR_001741929.1:n.2C= (AGA-DT) |