Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895474C= , CM000685.2:g.141895474C= | GRCh38 |
| NC_000023.10:g.140983260C= , CM000685.1:g.140983260C= | GRCh37 |
| NC_000023.9:g.140810926C= | NCBI36 |
| NG_013272.1:g.62159C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298296.1:c.1049-11C= MANE Select | ENSP00000298296.1:n.1049-11C= | |
| ENST00000443323.2:c.-118-957C= | ENSP00000438254.1:n.-118-957C= | |
| ENST00000483584.5:n.288+67C= | ||
| ENST00000544766.5:c.-240+67C= | ENSP00000440444.1:n.-240+67C= | |
| NM_138702.1:c.1049-11C= MANE Select | NP_619647.1:n.1049-11C= | |
| NM_177456.2:c.-240+67C= | NP_803251.1:n.-240+67C= | |
| XM_011531267.1:c.-163+67C= | XP_011529569.1:n.-163+67C= | |
| XM_011531267.3:c.-163+67C= | XP_011529569.1:n.-163+67C= | |
| XM_017029265.2:c.-240+67C= | XP_016884754.1:n.-240+67C= |