Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22032880C= , CM000685.2:g.22032880C= | GRCh38 |
| NC_000023.10:g.22050998C= , CM000685.1:g.22050998C= | GRCh37 |
| NC_000023.9:g.21960919C= | NCBI36 |
| NG_007563.2:g.5078C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.301C= | ||
| ENST00000683214.1:n.301C= | ||
| ENST00000684143.1:c.-126C= | ENSP00000508264.1:n.-126C= | |
| ENST00000379374.5:c.-126C= MANE Select | ENSP00000368682.4:n.-126C= | |
| ENST00000379374.4:c.-126C= | ENSP00000368682.4:n.-126C= | |
| NM_000444.5:c.-126C= | NP_000435.3:n.-126C= | |
| NM_001282754.1:c.-126C= | NP_001269683.1:n.-126C= | |
| XM_011545535.1:c.-126C= | XP_011543837.1:n.-126C= | |
| XR_001755695.1:n.554C= | ||
| NM_000444.6:c.-126C= MANE Select | NP_000435.3:n.-126C= | |
| NM_001282754.2:c.-126C= | NP_001269683.1:n.-126C= |