Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49913814C= , CM000684.2:g.49913814C= | GRCh38 |
| NC_000022.10:g.50307462C= , CM000684.1:g.50307462C= | GRCh37 |
| NC_000022.9:g.48693466C= | NCBI36 |
| NG_008927.1:g.9645G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330817.11:c.-49G= MANE Select | ENSP00000333813.5:n.-49G= | |
| ENST00000330817.10:c.-49G= | ENSP00000333813.5:n.-49G= | |
| NM_024105.3:c.-49G= | NP_077010.1:n.-49G= | |
| XM_011530369.1:c.-49G= | XP_011528671.1:n.-49G= | |
| XM_011530370.1:c.-49G= | XP_011528672.1:n.-49G= | |
| XM_011530371.1:c.-49G= | XP_011528673.1:n.-49G= | |
| XM_011530371.2:c.-49G= | XP_011528673.1:n.-49G= | |
| XM_017028936.1:c.-49G= | XP_016884425.1:n.-49G= | |
| XM_017028937.1:c.-49G= | XP_016884426.1:n.-49G= | |
| NM_024105.4:c.-49G= MANE Select | NP_077010.1:n.-49G= |