Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31571990C= , CM000668.2:g.31571990C= | GRCh38 |
| NC_000006.11:g.31539767C= , CM000668.1:g.31539767C= | GRCh37 |
| NC_000006.10:g.31647746C= | NCBI36 |
| NG_007462.1:g.1418C= | |
| NG_012010.1:g.4892C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011514614.1:c.-177-145C= | XP_011512916.1:n.-177-145C= | |
| XM_011514615.1:c.-177-145C= | XP_011512917.1:n.-177-145C= | |
| XM_011514616.1:c.-177-145C= | XP_011512918.1:n.-177-145C= | |
| XM_011514617.1:c.-177-145C= | XP_011512919.1:n.-177-145C= | |
| XM_011514618.1:c.-177-145C= | XP_011512920.1:n.-177-145C= | |
| XR_926695.1:n.116+593G= | ||
| NR_149045.1:n.121+593G= | ||
| XM_011514615.2:c.-177-145C= | XP_011512917.1:n.-177-145C= | |
| XM_011514616.2:c.-177-145C= | XP_011512918.1:n.-177-145C= | |
| XM_011514617.2:c.-177-145C= | XP_011512919.1:n.-177-145C= |