Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73952003C= , CM000677.2:g.73952003C= | GRCh38 |
| NC_000015.9:g.74244344C= , CM000677.1:g.74244344C= | GRCh37 |
| NC_000015.8:g.72031397C= | NCBI36 |
| NG_011466.1:g.30556C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005576.4:c.*166C= MANE Select | NP_005567.2:n.*166C= |
| ENST00000261921.8:c.*166C= MANE Select | ENSP00000261921.7:n.*166C= |
| NM_005576.2:c.*166C= | NP_005567.2:n.*166C= |
| NM_005576.3:c.*166C= | NP_005567.2:n.*166C= |
| ENST00000261921.7:c.*166C= | ENSP00000261921.7:n.*166C= |
| ENST00000562548.1:n.976C= | |
| ENST00000567675.1:n.327C= | |
| XM_017022179.1:c.*166C= | XP_016877668.1:n.*166C= |
| XR_931824.1:n.2408C= | |
| XR_931824.2:n.2397C= |