Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575574G= , CM000670.2:g.86575574G= | GRCh38 |
| NC_000008.10:g.87587802G= , CM000670.1:g.87587802G= | GRCh37 |
| NC_000008.9:g.87656918G= | NCBI36 |
| NG_016980.1:g.173102C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.*230C= MANE Select | ENSP00000316605.5:n.*230C= | |
| ENST00000681546.1:n.2480C= | ||
| ENST00000681746.1:c.*1071C= | ENSP00000505959.1:n.*1071C= | |
| ENST00000320005.5:c.*230C= | ENSP00000316605.5:n.*230C= | |
| ENST00000517327.5:c.276+3115C= | ENSP00000428329.1:n.276+3115C= | |
| NM_019098.4:c.*230C= | NP_061971.3:n.*230C= | |
| XM_011517138.1:c.*230C= | XP_011515440.1:n.*230C= | |
| XM_011517138.2:c.*230C= | XP_011515440.1:n.*230C= | |
| NM_019098.5:c.*230C= MANE Select | NP_061971.3:n.*230C= |